R31E (p.Arg31Glu) variant of COL1A2 (Collagen alpha-2(I) chain)
R31E (p.Arg31Glu) in COL1A2 (Collagen alpha-2(I) chain) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data, published literature, and structural context.
R31E (p.Arg31Glu) variant details
- p.Arg31Glu
- gnomAD 7-94398389-TA-T
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.372
- CADD 32.00
- Population evidence available
- Structural context available
- Literature evidence available