R31I (p.Arg31Ile) variant of COL1A2 (Collagen alpha-2(I) chain)
R31I (p.Arg31Ile) in COL1A2 (Collagen alpha-2(I) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data, published literature, and structural context.
R31I (p.Arg31Ile) variant details
- p.Arg31Ile
- gnomAD 7-94398392-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.473
- REVEL 0.24
- CADD 23.70
- PolyPhen-2 0.00
- SIFT 0.19
- Population evidence available
- Structural context available
- Literature evidence available