I112V (p.Ile112Val) variant of COL6A3 (Collagen alpha-3(VI) chain)
I112V (p.Ile112Val) in COL6A3 (Collagen alpha-3(VI) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data and structural context.
I112V (p.Ile112Val) variant details
- p.Ile112Val
- gnomAD rs1156610137
- Missense
- Variant Prioritization Score for Impact Estimate 0.15
- REVEL 0.15
- MetaLR 0.24
- MetaSVM -0.94
- CADD 0.30
- PolyPhen-2 0.00
- SIFT 0.93
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available