V112A (p.Val112Ala) variant of EYS (Protein eyes shut homolog)
V112A (p.Val112Ala) in EYS (Protein eyes shut homolog) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data.
V112A (p.Val112Ala) variant details
- p.Val112Ala
- rs562862906
- ClinGen CA3878093
- NCI-TCGA Cosmic COSV1006
- cosmic curated COSV10067
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.149
- REVEL 0.12
- CADD 18.60
- PolyPhen-2 0.00
- SIFT 0.02
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance (in dbSNP:rs112609906)
- UniProt: Uncertain significance (in dbSNP:rs112609906)
- Population evidence available