V32I (p.Val32Ile) variant of COL6A3 (Collagen alpha-3(VI) chain)
V32I (p.Val32Ile) in COL6A3 (Collagen alpha-3(VI) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data and structural context.
V32I (p.Val32Ile) variant details
- p.Val32Ile
- gnomAD rs1431265386
- Missense
- Variant Prioritization Score for Impact Estimate 0.391
- REVEL 0.33
- MetaLR 0.29
- MetaSVM -0.77
- CADD 23.10
- PolyPhen-2 0.11
- SIFT 0.11
- Most common in the African/African-American population (allele frequency 0.00012)
- Structural context available