L25F (p.Leu25Phe) variant of CHEK1 (O14757)
L25F (p.Leu25Phe) in CHEK1 (O14757) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data, published literature, and structural context.
L25F (p.Leu25Phe) variant details
- p.Leu25Phe
- gnomAD 11-125627614-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.501
- REVEL 0.33
- CADD 20.10
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Finnish in Finland (FIN) population (allele frequency 1.9e-05)
- Structural context available
- Literature evidence available