R77Q (p.Arg77Gln) variant of EYA1 (Protein phosphatase EYA1)
R77Q (p.Arg77Gln) 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; Otofaciocervical syndrome 1; Branchiootic syndrome 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data, published literature, and structural context.
R77Q (p.Arg77Gln) variant details
- p.Arg77Gln
- rs770356158
- ClinGen CA4779848
- NCI-TCGA Cosmic COSV5816
- cosmic curated COSV58169
- Conflicting interpretations
- Melnick-Fraser syndrome; Otofaciocervical syndrome 1; Branchiootic syndrome 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.443
- REVEL 0.29
- MetaLR 0.47
- MetaSVM -0.21
- CADD 24.90
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (Melnick-Fraser syndrome; Otofaciocervical syndrome 1; Branchioot)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the HGDP:YAKUT population (allele frequency 0.04)
- Structural context available
- Cited in: Branchiootorenal Spectrum Disorder. (PMID 20301554)