D134N (p.Asp134Asn) variant of ETFA (P13804)
D134N (p.Asp134Asn) in ETFA (P13804) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.91 / 1. The record also includes structural context.
D134N (p.Asp134Asn) variant details
- p.Asp134Asn
- ESP rs372537478
- TOPMed rs372537478
- gnomAD rs372537478
- Missense
- Variant Prioritization Score for Impact Estimate 0.907
- ESM-1b 1.00
- AlphaMissense 0.79
- Structural context available