Y109C (p.Tyr109Cys) variant of EYA1 (Protein phosphatase EYA1)
Y109C (p.Tyr109Cys) in EYA1 (Protein phosphatase EYA1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data and structural context.
Y109C (p.Tyr109Cys) variant details
- p.Tyr109Cys
- gnomAD rs1489979978
- Missense
- Variant Prioritization Score for Impact Estimate 0.731
- REVEL 0.76
- MetaLR 0.77
- MetaSVM 0.68
- CADD 27.60
- PolyPhen-2 0.85
- SIFT 0.00
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available