S17G (p.Ser17Gly) variant of EYA1 (Protein phosphatase EYA1)
S17G (p.Ser17Gly) 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 0.20 / 1. The record also includes population frequency data, published literature, and structural context.
S17G (p.Ser17Gly) variant details
- p.Ser17Gly
- rs747231434
- ClinGen CA4779935
- ClinVar RCV000999043
- ClinVar RCV001858894
- Conflicting interpretations
- Branchiootic syndrome 1; Otofaciocervical syndrome 1; Branchiootorenal syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.2
- REVEL 0.04
- MetaLR 0.09
- MetaSVM -1.06
- CADD 18.80
- PolyPhen-2 0.00
- SIFT 0.03
- ClinVar: Conflicting classifications of pathogenicity (Branchiootic syndrome 1; Otofaciocervical syndrome 1; Branchioot)
- EBI: Benign
- UniProt: Benign
- Most common in the African/African-American population (allele frequency 0.00031)
- Structural context available
- Cited in: Branchiootorenal Spectrum Disorder. (PMID 20301554)