S72G (p.Ser72Gly) variant of EYA1 (Protein phosphatase EYA1)
S72G (p.Ser72Gly) in EYA1 (Protein phosphatase EYA1) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data and structural context.
S72G (p.Ser72Gly) variant details
- p.Ser72Gly
- rs1275882788
- NCI-TCGA Cosmic COSV5816
- cosmic curated COSV58164
- TOPMed rs1275882788
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.405
- REVEL 0.34
- MetaLR 0.47
- MetaSVM -0.18
- CADD 25.90
- PolyPhen-2 0.98
- SIFT 0.05
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the African/African-American population (allele frequency 0.00031)
- Structural context available