P109S (p.Pro109Ser) variant of COL2A1 (Collagen alpha-1(II) chain)
P109S (p.Pro109Ser) in COL2A1 (Collagen alpha-1(II) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes population frequency data and structural context.
P109S (p.Pro109Ser) variant details
- p.Pro109Ser
- ESP rs373195482
- ExAC rs373195482
- gnomAD rs373195482
- Missense
- Variant Prioritization Score for Impact Estimate 0.707
- REVEL 0.66
- CADD 25.70
- PolyPhen-2 0.99
- SIFT 0.08
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available