A36T (p.Ala36Thr) variant of CHEK1 (O14757)
A36T (p.Ala36Thr) 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 0.75 / 1. The record also includes population frequency data and structural context.
A36T (p.Ala36Thr) variant details
- p.Ala36Thr
- rs753180922
- NCI-TCGA Cosmic COSV9962
- cosmic curated COSV99629
- ExAC rs753180922
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.745
- REVEL 0.75
- CADD 20.80
- PolyPhen-2 1.00
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available