L25V (p.Leu25Val) variant of CHEK1 (O14757)
L25V (p.Leu25Val) in CHEK1 (O14757) 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.
L25V (p.Leu25Val) variant details
- p.Leu25Val
- gnomAD 11-125627614-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.467
- REVEL 0.27
- CADD 19.70
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available