FKRP p.Arg320Ser
c.957_958delinsAA · rs1555738880 · VCV449592
Uncertain significance
Single submitter
Classification
Uncertain significance
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Not reported
no gnomAD frequency available for this variant
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
|---|---|---|
| Constraint at this position | ||
| Conservation | phyloP 3.7 | GERP 1.1, phastCons 1 |
| Regional constraint | o/e 1.06 | unconstrained · MANE · 1,484 bp · p 0.11 · regional, not allelic |
Population frequency
dbSNP / gnomAD
No gnomAD frequency available for this variant. This is missing data, not an absence: the variant may or may not be present in gnomAD. Rarity (ACMG PM2) and BA1/BS1 cannot be assessed for it.
Variant & gene context
- Gene
- FKRP
- Protein
- p.Arg320Ser
- Coding
- c.957_958delinsAA
- MANE Select
- NM_024301
- dbSNP
- rs1555738880
- Type
- Indel
- Location
- chr19:46756407 (GRCh38)
- Gene constraint
- LOEUF 1.543 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 94.08 · 8 PDB
- Residue 320
- an α-helix
Similar variants
- FKRP p.Arg320His Uncertain significance ★★ ⚠ same residue
- FKRP p.Arg320= Likely benign ★★ same residue
- FKRP p.Arg320Cys Uncertain significance ★ ⚠ same residue
- FKRP p.Arg320Pro Uncertain significance ⚠ same residue
- FKRP p.Arg54Trp Pathogenic ★★ same type
- FKRP p.Ala336fs Likely pathogenic ★ same type
- FKRP p.Asp74fs Likely pathogenic ★ same type
- FKRP p.Gln28Ter Pathogenic ★ same type
Built on 18 open, versioned datasets — ClinVar, gnomAD, AlphaMissense, REVEL, ClinGen & more — plus Sugi Variant's own cross-source analysis. Source data 2026-01–2026-10, ClinVar 2026-10. Full sources & versions →
Cite Sugi Variant
Gür T. Sugi Variant: A Deterministic Per-Variant Germline Reference from a Knowledge Graph for Humans and AI Agents. 2026. doi:10.5281/zenodo.21509445. This variant: https://sugi.bio/variant/fkrp-p-arg320ser (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown