V71A (p.Val71Ala) variant of COL6A3 (Collagen alpha-3(VI) chain)
V71A (p.Val71Ala) in COL6A3 (Collagen alpha-3(VI) chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data and structural context.
V71A (p.Val71Ala) variant details
- p.Val71Ala
- rs2469974815
- ClinGen CA351228115
- ClinVar RCV003143322
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.414
- REVEL 0.49
- MetaLR 0.43
- MetaSVM -0.46
- CADD 22.70
- PolyPhen-2 0.03
- SIFT 0.03
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Middle Eastern population (allele frequency 0.0007)
- Structural context available