R31K (p.Arg31Lys) variant of COL1A2 (Collagen alpha-2(I) chain)
R31K (p.Arg31Lys) in COL1A2 (Collagen alpha-2(I) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data, published literature, and structural context.
R31K (p.Arg31Lys) variant details
- p.Arg31Lys
- gnomAD 7-94398392-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.422
- REVEL 0.18
- CADD 18.10
- PolyPhen-2 0.00
- SIFT 0.90
- Population evidence available
- Structural context available
- Literature evidence available