S28C (p.Ser28Cys) variant of EYA1 (Protein phosphatase EYA1)
S28C (p.Ser28Cys) in EYA1 (Protein phosphatase EYA1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data and structural context.
S28C (p.Ser28Cys) variant details
- p.Ser28Cys
- ExAC rs558089479
- TOPMed rs558089479
- gnomAD rs558089479
- Missense
- Variant Prioritization Score for Impact Estimate 0.591
- REVEL 0.41
- MetaLR 0.69
- MetaSVM 0.50
- CADD 28.40
- PolyPhen-2 0.96
- SIFT 0.00
- Most common in the 1KG:MSL population (allele frequency 0.013)
- Structural context available