D47G (p.Asp47Gly) variant of CHEK1 (O14757)
D47G (p.Asp47Gly) in CHEK1 (O14757) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data and structural context.
D47G (p.Asp47Gly) variant details
- p.Asp47Gly
- NCI-TCGA Cosmic COSV9962
- cosmic curated COSV99629
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.389
- REVEL 0.25
- CADD 21.30
- PolyPhen-2 0.06
- SIFT 0.12
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available