S11G (p.Ser11Gly) variant of EYA1 (Protein phosphatase EYA1)
S11G (p.Ser11Gly) in EYA1 (Protein phosphatase EYA1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data and structural context.
S11G (p.Ser11Gly) variant details
- p.Ser11Gly
- Ensembl rs1826700768
- Missense
- Variant Prioritization Score for Impact Estimate 0.457
- REVEL 0.35
- MetaLR 0.56
- MetaSVM -0.03
- CADD 23.80
- PolyPhen-2 0.24
- SIFT 0.06
- Most common in the HGDP:YAKUT population (allele frequency 0.04)
- Structural context available