R12H (p.Arg12His) variant of EYA1 (Protein phosphatase EYA1)
R12H (p.Arg12His) in EYA1 (Protein phosphatase EYA1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Melnick-Fraser syndrome; not specified; Otofaciocervical syndrome 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data and structural context.
R12H (p.Arg12His) variant details
- p.Arg12His
- rs74720958
- ClinGen CA4779938
- cosmic curated COSV10038
- ClinVar RCV000825672
- Conflicting interpretations
- Melnick-Fraser syndrome; not specified; Otofaciocervical syndrome 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.329
- REVEL 0.18
- MetaLR 0.29
- MetaSVM -0.52
- CADD 23.90
- PolyPhen-2 0.71
- SIFT 0.07
- ClinVar: Conflicting classifications of pathogenicity (Melnick-Fraser syndrome; not specified; Otofaciocervical syndrom)
- EBI: Benign
- UniProt: Benign
- Most common in the HGDP:YAKUT population (allele frequency 0.04)
- Structural context available