G22D (p.Gly22Asp) variant of EYA1 (Protein phosphatase EYA1)
G22D (p.Gly22Asp) 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 not specified; Inborn genetic diseases; Melnick-Fraser syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data, published literature, and structural context.
G22D (p.Gly22Asp) variant details
- p.Gly22Asp
- rs727503049
- ClinGen CA176088
- ClinVar RCV000150678
- ClinVar RCV002505146
- Conflicting interpretations
- not specified; Inborn genetic diseases; Melnick-Fraser syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.373
- REVEL 0.25
- MetaLR 0.15
- MetaSVM -0.87
- CADD 22.90
- PolyPhen-2 0.20
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (not specified; Inborn genetic diseases; Melnick-Fraser syndrome)
- EBI: Benign
- UniProt: Benign
- Most common in the HGDP:YAKUT population (allele frequency 0.04)
- Structural context available
- Cited in: Branchiootorenal Spectrum Disorder. (PMID 20301554)
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)