V102I (p.Val102Ile) variant of COL6A3 (Collagen alpha-3(VI) chain)
V102I (p.Val102Ile) 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.
V102I (p.Val102Ile) variant details
- p.Val102Ile
- ExAC rs758569165
- gnomAD rs758569165
- Missense
- Variant Prioritization Score for Impact Estimate 0.389
- REVEL 0.29
- MetaLR 0.40
- MetaSVM -0.28
- CADD 23.10
- PolyPhen-2 0.67
- SIFT 0.23
- Most common in the 1KG:MXL population (allele frequency 0.0081)
- Structural context available