P44S (p.Pro44Ser) variant of COL6A2 (Collagen alpha-2(VI) chain)
P44S (p.Pro44Ser) in COL6A2 (Collagen alpha-2(VI) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data and structural context.
P44S (p.Pro44Ser) variant details
- p.Pro44Ser
- ExAC rs777293610
- gnomAD rs777293610
- Missense
- Variant Prioritization Score for Impact Estimate 0.651
- REVEL 0.57
- CADD 24.00
- PolyPhen-2 1.00
- SIFT 0.02
- Most common in the 1KG:MSL population (allele frequency 0.013)
- Structural context available