L52V (p.Leu52Val) variant of COL6A1 (Collagen alpha-1(VI) chain)
L52V (p.Leu52Val) in COL6A1 (Collagen alpha-1(VI) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data, published literature, and structural context.
L52V (p.Leu52Val) variant details
- p.Leu52Val
- gnomAD 21-45982690-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.375
- REVEL 0.28
- MetaLR 0.60
- MetaSVM -0.10
- CADD 20.40
- PolyPhen-2 0.01
- SIFT 0.82
- Population evidence available
- Structural context available
- Literature evidence available