A73D (p.Ala73Asp) variant of EYS (Protein eyes shut homolog)
A73D (p.Ala73Asp) in EYS (Protein eyes shut homolog) 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 0.16 / 1. The record also includes population frequency data.
A73D (p.Ala73Asp) variant details
- p.Ala73Asp
- rs1326141824
- NCI-TCGA Cosmic COSV6099
- cosmic curated COSV60993
- TOPMed rs1326141824
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.162
- REVEL 0.24
- CADD 1.49
- PolyPhen-2 0.00
- SIFT 0.02
- UniProt: Variant assessed as somatic; moderate impact.
- Population evidence available