A45T (p.Ala45Thr) variant of CHEK1 (O14757)
A45T (p.Ala45Thr) in CHEK1 (O14757) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.09 / 1. The record also includes population frequency data, published literature, and structural context.
A45T (p.Ala45Thr) variant details
- p.Ala45Thr
- rs1453731906
- gnomAD 11-125625917-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.0871
- CADD 0.91
- Population evidence available
- Structural context available
- Literature evidence available