A34P (p.Ala34Pro) variant of CHEK1 (O14757)
A34P (p.Ala34Pro) in CHEK1 (O14757) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data, published literature, and structural context.
A34P (p.Ala34Pro) variant details
- p.Ala34Pro
- gnomAD 11-125627641-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.639
- REVEL 0.57
- CADD 20.70
- PolyPhen-2 0.97
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available
- Literature evidence available