S65L (p.Ser65Leu) variant of EYA1 (Protein phosphatase EYA1)
S65L (p.Ser65Leu) in EYA1 (Protein phosphatase EYA1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data and structural context.
S65L (p.Ser65Leu) variant details
- p.Ser65Leu
- TOPMed rs1389200174
- gnomAD rs1389200174
- Missense
- Variant Prioritization Score for Impact Estimate 0.514
- REVEL 0.36
- MetaLR 0.24
- MetaSVM -0.66
- CADD 32.00
- PolyPhen-2 0.89
- SIFT 0.02
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00091)
- Structural context available