A183V (p.Ala183Val) variant of ETFA (P13804)
A183V (p.Ala183Val) in ETFA (P13804) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data and structural context.
A183V (p.Ala183Val) variant details
- p.Ala183Val
- ExAC rs764582263
- TOPMed rs764582263
- gnomAD rs764582263
- Missense
- Variant Prioritization Score for Impact Estimate 0.456
- REVEL 0.42
- ESM-1b 0.00
- AlphaMissense 0.27
- CADD 23.60
- PolyPhen-2 0.08
- SIFT 0.05
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available