A14D (p.Ala14Asp) variant of ETFA (P13804)
A14D (p.Ala14Asp) in ETFA (P13804) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data and structural context.
A14D (p.Ala14Asp) variant details
- p.Ala14Asp
- gnomAD rs2039811433
- Missense
- Variant Prioritization Score for Impact Estimate 0.295
- REVEL 0.10
- ESM-1b 1.00
- AlphaMissense 0.25
- CADD 22.80
- PolyPhen-2 0.04
- SIFT 0.02
- Most common in the African/African-American population (allele frequency 2.5e-05)
- Structural context available