V23F (p.Val23Phe) variant of CHEK1 (O14757)
V23F (p.Val23Phe) in CHEK1 (O14757) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data, published literature, and structural context.
V23F (p.Val23Phe) variant details
- p.Val23Phe
- gnomAD 11-125627608-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.734
- REVEL 0.72
- CADD 23.10
- PolyPhen-2 1.00
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available