F5Y (p.Phe5Tyr) variant of CHEK1 (O14757)
F5Y (p.Phe5Tyr) in CHEK1 (O14757) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.11 / 1. The record also includes population frequency data, published literature, and structural context.
F5Y (p.Phe5Tyr) variant details
- p.Phe5Tyr
- rs1345632360
- gnomAD 11-125625855-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.112
- CADD 4.40
- Most common in the Non-Finnish European population (allele frequency 3.2e-06)
- Structural context available
- Literature evidence available