P8L (p.Pro8Leu) variant of COL6A3 (Collagen alpha-3(VI) chain)
P8L (p.Pro8Leu) in COL6A3 (Collagen alpha-3(VI) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data and structural context.
P8L (p.Pro8Leu) variant details
- p.Pro8Leu
- ExAC rs753695671
- gnomAD rs753695671
- Missense
- Variant Prioritization Score for Impact Estimate 0.523
- REVEL 0.56
- MetaLR 0.74
- MetaSVM 0.69
- CADD 24.30
- PolyPhen-2 0.15
- SIFT 0.33
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available