C22R (p.Cys22Arg) variant of COL1A2 (Collagen alpha-2(I) chain)
C22R (p.Cys22Arg) in COL1A2 (Collagen alpha-2(I) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data, published literature, and structural context.
C22R (p.Cys22Arg) variant details
- p.Cys22Arg
- gnomAD 7-94395095-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.579
- REVEL 0.67
- CADD 25.30
- PolyPhen-2 0.17
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available