K32R (p.Lys32Arg) variant of COL1A2 (Collagen alpha-2(I) chain)
K32R (p.Lys32Arg) in COL1A2 (Collagen alpha-2(I) chain) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes population frequency data, published literature, and structural context.
K32R (p.Lys32Arg) variant details
- p.Lys32Arg
- gnomAD 7-94398392-GA-G
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.816
- CADD 24.60
- Population evidence available
- Structural context available
- Literature evidence available