A125P (p.Ala125Pro) variant of ETFA (P13804)
A125P (p.Ala125Pro) in ETFA (P13804) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.99 / 1. The record also includes structural context.
A125P (p.Ala125Pro) variant details
- p.Ala125Pro
- TOPMed rs2039718000
- Missense
- Variant Prioritization Score for Impact Estimate 0.993
- ESM-1b 1.00
- AlphaMissense 0.98
- Structural context available