P49H (p.Pro49His) variant of CHEK1 (O14757)
P49H (p.Pro49His) 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.
P49H (p.Pro49His) variant details
- p.Pro49His
- rs1283851911
- gnomAD 11-125625852-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.128
- CADD 6.73
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available
- Literature evidence available