G66C (p.Gly66Cys) variant of EYA1 (Protein phosphatase EYA1)
G66C (p.Gly66Cys) 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 Branchiootic syndrome 1; Otofaciocervical syndrome 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data, published literature, and structural context.
G66C (p.Gly66Cys) variant details
- p.Gly66Cys
- rs886063089
- ClinGen CA10631496
- ClinVar RCV000303649
- ClinVar RCV000342060
- Uncertain significance
- Branchiootic syndrome 1; Otofaciocervical syndrome 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.541
- REVEL 0.41
- MetaLR 0.43
- MetaSVM -0.21
- CADD 26.90
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Uncertain significance (Branchiootic syndrome 1; Otofaciocervical syndrome 1)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:MAKRANI population (allele frequency 0.023)
- Structural context available
- Cited in: Branchiootorenal Spectrum Disorder. (PMID 20301554)