P4A (p.Pro4Ala) variant of CHEK1 (O14757)
P4A (p.Pro4Ala) in CHEK1 (O14757) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.10 / 1. The record also includes population frequency data, published literature, and structural context.
P4A (p.Pro4Ala) variant details
- p.Pro4Ala
- rs987393347
- gnomAD 11-125625803-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.101
- CADD 2.93
- Most common in the African/African-American population (allele frequency 7.2e-05)
- Structural context available
- Literature evidence available