P81S (p.Pro81Ser) variant of COL2A1 (Collagen alpha-1(II) chain)
P81S (p.Pro81Ser) in COL2A1 (Collagen alpha-1(II) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data and structural context.
P81S (p.Pro81Ser) variant details
- p.Pro81Ser
- gnomAD rs1292156036
- Missense
- Variant Prioritization Score for Impact Estimate 0.443
- REVEL 0.23
- CADD 23.40
- PolyPhen-2 0.01
- SIFT 0.04
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available