G26S (p.Gly26Ser) variant of EYA1 (Protein phosphatase EYA1)
G26S (p.Gly26Ser) 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 Branchiootic syndrome 1; Otofaciocervical syndrome 1; Branchiootorenal syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data, published literature, and structural context.
G26S (p.Gly26Ser) variant details
- p.Gly26Ser
- rs199664417
- ClinGen CA4779929
- NCI-TCGA Cosmic COSV1003
- NCI-TCGA Cosmic COSV5817
- Conflicting interpretations
- Branchiootic syndrome 1; Otofaciocervical syndrome 1; Branchiootorenal syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.534
- REVEL 0.44
- MetaLR 0.34
- MetaSVM -0.47
- CADD 23.90
- PolyPhen-2 0.05
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (Branchiootic syndrome 1; Otofaciocervical syndrome 1; Branchioot)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the 1KG:MXL population (allele frequency 0.0081)
- Structural context available
- Cited in: Branchiootorenal Spectrum Disorder. (PMID 20301554)