H134N (p.His134Asn) variant of EYS (Protein eyes shut homolog)
H134N (p.His134Asn) in EYS (Protein eyes shut homolog) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data.
H134N (p.His134Asn) variant details
- p.His134Asn
- rs765304266
- NCI-TCGA Cosmic COSV6100
- cosmic curated COSV61001
- ExAC rs765304266
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.228
- REVEL 0.25
- CADD 10.30
- PolyPhen-2 0.30
- SIFT 0.18
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available