A20V (p.Ala20Val) variant of COL6A2 (Collagen alpha-2(VI) chain)
A20V (p.Ala20Val) in COL6A2 (Collagen alpha-2(VI) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data, published literature, and structural context.
A20V (p.Ala20Val) variant details
- p.Ala20Val
- gnomAD 21-46111535-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.274
- REVEL 0.16
- CADD 20.80
- PolyPhen-2 0.02
- SIFT 0.03
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available
- Literature evidence available