S71N (p.Ser71Asn) variant of EYA1 (Protein phosphatase EYA1)
S71N (p.Ser71Asn) 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 0.28 / 1. The record also includes population frequency data and structural context.
S71N (p.Ser71Asn) variant details
- p.Ser71Asn
- rs1462564075
- TOPMed rs1462564075
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.276
- REVEL 0.11
- MetaLR 0.31
- MetaSVM -0.66
- CADD 18.50
- PolyPhen-2 0.00
- SIFT 0.04
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available