MVD p.Phe271fs
c.811_815del · rs2142896426 · VCV1344672
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Consequence | frameshift | predicted loss-of-function |
|---|---|---|
| NMD | predicted | premature termination codon in exon 7 of 10 |
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
| Constraint at this position | ||
| Conservation | phyloP -9.9 | GERP -3.6 |
Predicted loss-of-function is descriptive, not an applied PVS1 code.
Population frequency
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
- MVD
- Protein
- p.Phe271fs
- Coding
- c.811_815del
- MANE Select
- NM_002461
- dbSNP
- rs2142896426
- Type
- Deletion
- Location
- chr16:88655281 (GRCh38)
- Gene constraint
- LOEUF 1.706 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 92.52 · 1 PDB
- Residue 271
- a β-strand
Similar variants
- MVD c.141+1del Pathogenic ★ same type
- MVD p.Gly365fs Uncertain significance ★ 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/mvd-p-phe271fs (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown