F5S (p.Phe5Ser) variant of CHEK1 (O14757)
F5S (p.Phe5Ser) in CHEK1 (O14757) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data, published literature, and structural context.
F5S (p.Phe5Ser) variant details
- p.Phe5Ser
- rs1345632360
- gnomAD 11-125625855-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.132
- CADD 7.32
- Most common in the Latino/Admixed American population (allele frequency 0.00012)
- Structural context available
- Literature evidence available