G31V (p.Gly31Val) variant of COL3A1 (Collagen alpha-1(III) chain)
G31V (p.Gly31Val) in COL3A1 (Collagen alpha-1(III) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data, published literature, and structural context.
G31V (p.Gly31Val) variant details
- p.Gly31Val
- gnomAD 2-188984772-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.431
- REVEL 0.37
- MetaLR 0.24
- MetaSVM -0.58
- CADD 23.30
- PolyPhen-2 0.31
- SIFT 0.08
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available