D9Y (p.Asp9Tyr) variant of KRIT1 (O00522)
D9Y (p.Asp9Tyr) in KRIT1 (O00522) 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 0.51 / 1. The record also includes population frequency data and structural context.
D9Y (p.Asp9Tyr) variant details
- p.Asp9Tyr
- NCI-TCGA Cosmic COSV5606
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.507
- REVEL 0.38
- CADD 26.80
- PolyPhen-2 0.32
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the African/African-American population (allele frequency 0.00048)
- Structural context available