G70E (p.Gly70Glu) variant of EYA1 (Protein phosphatase EYA1)
G70E (p.Gly70Glu) in EYA1 (Protein phosphatase EYA1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data and structural context.
G70E (p.Gly70Glu) variant details
- p.Gly70Glu
- cosmic curated COSV10441
- gnomAD rs1822654842
- Missense
- Variant Prioritization Score for Impact Estimate 0.44
- REVEL 0.26
- MetaLR 0.22
- MetaSVM -0.84
- CADD 23.50
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available