D47Y (p.Asp47Tyr) variant of CRB1 (Protein crumbs homolog 1)
D47Y (p.Asp47Tyr) in CRB1 (Protein crumbs homolog 1) 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 0.31 / 1. The record also includes population frequency data and structural context.
D47Y (p.Asp47Tyr) variant details
- p.Asp47Tyr
- NCI-TCGA Cosmic COSV6634
- cosmic curated COSV66341
- gnomAD rs1558056654
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.315
- REVEL 0.33
- MetaLR 0.78
- MetaSVM 0.07
- CADD 3.50
- PolyPhen-2 0.12
- SIFT 0.04
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available