S17N (p.Ser17Asn) variant of EYA1 (Protein phosphatase EYA1)
S17N (p.Ser17Asn) in EYA1 (Protein phosphatase EYA1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data and structural context.
S17N (p.Ser17Asn) variant details
- p.Ser17Asn
- ExAC rs780483424
- gnomAD rs780483424
- Missense
- Variant Prioritization Score for Impact Estimate 0.262
- REVEL 0.06
- MetaLR 0.15
- MetaSVM -0.92
- CADD 20.60
- PolyPhen-2 0.01
- SIFT 0.00
- Most common in the East Asian population (allele frequency 0.00015)
- Structural context available