K5R (p.Lys5Arg) variant of CHD2 (O14647)
K5R (p.Lys5Arg) in CHD2 (O14647) is a protein-truncating 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.
K5R (p.Lys5Arg) variant details
- p.Lys5Arg
- gnomAD 15-92901249-TA-T
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.576
- CADD 31.00
- Population evidence available
- Structural context available
- Literature evidence available