G66D (p.Gly66Asp) variant of EYA1 (Protein phosphatase EYA1)
G66D (p.Gly66Asp) in EYA1 (Protein phosphatase EYA1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data and structural context.
G66D (p.Gly66Asp) variant details
- p.Gly66Asp
- cosmic curated COSV58171
- Missense
- Variant Prioritization Score for Impact Estimate 0.497
- REVEL 0.36
- MetaLR 0.35
- MetaSVM -0.56
- CADD 23.70
- PolyPhen-2 0.71
- SIFT 0.00
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00019)
- Structural context available