G110E (p.Gly110Glu) variant of EYA1 (Protein phosphatase EYA1)
G110E (p.Gly110Glu) in EYA1 (Protein phosphatase EYA1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes population frequency data and structural context.
G110E (p.Gly110Glu) variant details
- p.Gly110Glu
- ExAC rs769041202
- gnomAD rs769041202
- Missense
- Variant Prioritization Score for Impact Estimate 0.745
- REVEL 0.69
- MetaLR 0.79
- MetaSVM 0.69
- CADD 26.00
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available