V28L (p.Val28Leu) variant of COL3A1 (Collagen alpha-1(III) chain)
V28L (p.Val28Leu) in COL3A1 (Collagen alpha-1(III) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data and structural context.
V28L (p.Val28Leu) variant details
- p.Val28Leu
- ExAC rs767509336
- gnomAD rs767509336
- Missense
- Variant Prioritization Score for Impact Estimate 0.196
- REVEL 0.21
- MetaLR 0.35
- MetaSVM -0.76
- CADD 5.46
- PolyPhen-2 0.00
- SIFT 0.62
- Most common in the Finnish in Finland (FIN) population (allele frequency 3.7e-05)
- Structural context available