G59R (p.Gly59Arg) variant of EYA1 (Protein phosphatase EYA1)
G59R (p.Gly59Arg) 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; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data and structural context.
G59R (p.Gly59Arg) variant details
- p.Gly59Arg
- rs146216506
- ClinGen CA4779866
- cosmic curated COSV58168
- ClinVar RCV001558781
- Uncertain significance
- Melnick-Fraser syndrome; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.476
- REVEL 0.32
- MetaLR 0.27
- MetaSVM -0.65
- CADD 24.10
- PolyPhen-2 0.71
- SIFT 0.01
- ClinVar: Uncertain significance (Melnick-Fraser syndrome; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 0.00012)
- Structural context available