G66V (p.Gly66Val) variant of EYA1 (Protein phosphatase EYA1)
G66V (p.Gly66Val) in EYA1 (Protein phosphatase EYA1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data and structural context.
G66V (p.Gly66Val) variant details
- p.Gly66Val
- rs149289196
- ClinGen CA4779865
- cosmic curated COSV10610
- ClinVar RCV002469740
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.545
- REVEL 0.43
- MetaLR 0.40
- MetaSVM -0.34
- CADD 25.60
- PolyPhen-2 0.92
- SIFT 0.00
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:FRENCH population (allele frequency 0.019)
- Structural context available