S11N (p.Ser11Asn) variant of EYA1 (Protein phosphatase EYA1)
S11N (p.Ser11Asn) 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 0.51 / 1. The record also includes population frequency data and structural context.
S11N (p.Ser11Asn) variant details
- p.Ser11Asn
- rs1164012590
- gnomAD rs1164012590
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.512
- REVEL 0.46
- MetaLR 0.52
- MetaSVM -0.03
- CADD 19.30
- SIFT 0.06
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the East Asian population (allele frequency 0.00015)
- Structural context available