G39S (p.Gly39Ser) variant of EYA1 (Protein phosphatase EYA1)
G39S (p.Gly39Ser) in EYA1 (Protein phosphatase EYA1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data and structural context.
G39S (p.Gly39Ser) variant details
- p.Gly39Ser
- cosmic curated COSV10733
- Missense
- Variant Prioritization Score for Impact Estimate 0.47
- REVEL 0.27
- MetaLR 0.35
- MetaSVM -0.56
- CADD 28.30
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the 1KG:MXL population (allele frequency 0.0081)
- Structural context available