S60P (p.Ser60Pro) variant of EYA1 (Protein phosphatase EYA1)
S60P (p.Ser60Pro) in EYA1 (Protein phosphatase EYA1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data and structural context.
S60P (p.Ser60Pro) variant details
- p.Ser60Pro
- Ensembl rs1824204061
- Missense
- Variant Prioritization Score for Impact Estimate 0.205
- REVEL 0.08
- MetaLR 0.14
- MetaSVM -0.98
- CADD 22.40
- PolyPhen-2 0.00
- SIFT 0.06
- Most common in the 1KG:MSL population (allele frequency 0.013)
- Structural context available