A68S (p.Ala68Ser) variant of EYA1 (Protein phosphatase EYA1)
A68S (p.Ala68Ser) in EYA1 (Protein phosphatase EYA1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data and structural context.
A68S (p.Ala68Ser) variant details
- p.Ala68Ser
- TOPMed rs1169615269
- gnomAD rs1169615269
- Missense
- Variant Prioritization Score for Impact Estimate 0.369
- REVEL 0.08
- MetaLR 0.16
- MetaSVM -0.93
- CADD 33.00
- SIFT 0.02
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00019)
- Structural context available