P7S (p.Pro7Ser) variant of COL2A1 (Collagen alpha-1(II) chain)
P7S (p.Pro7Ser) in COL2A1 (Collagen alpha-1(II) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data and structural context.
P7S (p.Pro7Ser) variant details
- p.Pro7Ser
- gnomAD rs1340689824
- Missense
- Variant Prioritization Score for Impact Estimate 0.219
- REVEL 0.18
- CADD 15.00
- PolyPhen-2 0.00
- SIFT 0.85
- Population evidence available
- Structural context available