K43T (p.Lys43Thr) variant of CHEK1 (O14757)
K43T (p.Lys43Thr) in CHEK1 (O14757) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data, published literature, and structural context.
K43T (p.Lys43Thr) variant details
- p.Lys43Thr
- gnomAD 11-125627669-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.239
- REVEL 0.06
- CADD 20.80
- PolyPhen-2 0.02
- SIFT 0.27
- Population evidence available
- Structural context available
- Literature evidence available