R425G (p.Arg425Gly) variant of EYA1 (Protein phosphatase EYA1)
R425G (p.Arg425Gly) in EYA1 (Protein phosphatase EYA1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Melnick-Fraser syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes population frequency data and structural context.
R425G (p.Arg425Gly) variant details
- p.Arg425Gly
- rs779423947
- ClinGen CA371466755
- ClinVar RCV003595309
- ExAC rs779423947
- Uncertain significance
- Melnick-Fraser syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.768
- REVEL 0.83
- MetaLR 0.71
- MetaSVM 0.48
- CADD 29.80
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Uncertain significance (Melnick-Fraser syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available