L11F (p.Leu11Phe) variant of CHEK1 (O14757)
L11F (p.Leu11Phe) 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.
L11F (p.Leu11Phe) variant details
- p.Leu11Phe
- rs1391215861
- gnomAD 11-125625785-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.471
- CADD 13.80
- Most common in the Non-Finnish European population (allele frequency 3.2e-06)
- Structural context available
- Literature evidence available