N31K (p.Asn31Lys) variant of EYA1 (Protein phosphatase EYA1)
N31K (p.Asn31Lys) in EYA1 (Protein phosphatase EYA1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data and structural context.
N31K (p.Asn31Lys) variant details
- p.Asn31Lys
- Ensembl rs2129069768
- Missense
- Variant Prioritization Score for Impact Estimate 0.209
- REVEL 0.04
- MetaLR 0.11
- MetaSVM -1.02
- CADD 22.40
- SIFT 0.00
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available