R12P (p.Arg12Pro) variant of EYA1 (Protein phosphatase EYA1)
R12P (p.Arg12Pro) in EYA1 (Protein phosphatase EYA1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of Melnick-Fraser syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data and structural context.
R12P (p.Arg12Pro) variant details
- p.Arg12Pro
- 1000Genomes rs74720958
- ESP rs74720958
- ExAC rs74720958
- TOPMed rs74720958
- Likely benign
- Melnick-Fraser syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.348
- REVEL 0.21
- MetaLR 0.29
- MetaSVM -0.66
- CADD 24.90
- PolyPhen-2 1.00
- SIFT 0.02
- ClinVar: Likely benign (Melnick-Fraser syndrome)
- EBI: Benign
- UniProt: Benign
- Most common in the Middle Eastern population (allele frequency 0.0007)
- Structural context available