L25W (p.Leu25Trp) variant of CHEK1 (O14757)
L25W (p.Leu25Trp) in CHEK1 (O14757) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data, published literature, and structural context.
L25W (p.Leu25Trp) variant details
- p.Leu25Trp
- gnomAD 11-125625818-GC-G
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.168
- CADD 12.30
- Population evidence available
- Structural context available
- Literature evidence available