A34T (p.Ala34Thr) variant of CHEK1 (O14757)
A34T (p.Ala34Thr) in CHEK1 (O14757) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data and structural context.
A34T (p.Ala34Thr) variant details
- p.Ala34Thr
- gnomAD rs1269445439
- Missense
- Variant Prioritization Score for Impact Estimate 0.478
- REVEL 0.30
- CADD 21.00
- PolyPhen-2 0.45
- SIFT 0.04
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available