V3F (p.Val3Phe) variant of COL5A1 (Collagen alpha-1(V) chain)
V3F (p.Val3Phe) in COL5A1 (Collagen alpha-1(V) chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Ehlers-Danlos syndrome, classic type, 1; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
V3F (p.Val3Phe) variant details
- p.Val3Phe
- rs1383699147
- ClinGen CA375443769
- ClinVar RCV001974238
- ClinVar RCV003146442
- Uncertain significance
- Ehlers-Danlos syndrome, classic type, 1; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.323
- REVEL 0.23
- CADD 18.40
- PolyPhen-2 0.02
- SIFT 0.66
- ClinVar: Uncertain significance (Ehlers-Danlos syndrome, classic type, 1; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available
- Cited in: Classic Ehlers-Danlos Syndrome. (PMID 20301422)