N31S (p.Asn31Ser) variant of EYA1 (Protein phosphatase EYA1)
N31S (p.Asn31Ser) 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.
N31S (p.Asn31Ser) variant details
- p.Asn31Ser
- Ensembl rs1826690625
- Missense
- Variant Prioritization Score for Impact Estimate 0.255
- REVEL 0.12
- MetaLR 0.09
- MetaSVM -1.01
- CADD 17.10
- PolyPhen-2 0.01
- SIFT 0.06
- Most common in the 1KG:MXL population (allele frequency 0.0081)
- Structural context available