S49N (p.Ser49Asn) variant of EYA1 (Protein phosphatase EYA1)
S49N (p.Ser49Asn) in EYA1 (Protein phosphatase EYA1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data and structural context.
S49N (p.Ser49Asn) variant details
- p.Ser49Asn
- TOPMed rs958156575
- Missense
- Variant Prioritization Score for Impact Estimate 0.294
- REVEL 0.07
- MetaLR 0.18
- MetaSVM -0.87
- CADD 21.50
- PolyPhen-2 0.01
- SIFT 0.09
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available