M2V (p.Met2Val) variant of COL3A1 (Collagen alpha-1(III) chain)
M2V (p.Met2Val) in COL3A1 (Collagen alpha-1(III) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data, published literature, and structural context.
M2V (p.Met2Val) variant details
- p.Met2Val
- gnomAD 2-188974493-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.384
- REVEL 0.38
- CADD 21.20
- PolyPhen-2 0.01
- SIFT 0.17
- Population evidence available
- Structural context available
- Literature evidence available