C48G (p.Cys48Gly) variant of CHEK1 (O14757)
C48G (p.Cys48Gly) in CHEK1 (O14757) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
C48G (p.Cys48Gly) variant details
- p.Cys48Gly
- gnomAD 11-125627683-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.31
- REVEL 0.22
- CADD 20.20
- PolyPhen-2 0.37
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Literature evidence available