R12Q (p.Arg12Gln) variant of ETFA (P13804)
R12Q (p.Arg12Gln) in ETFA (P13804) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data and structural context.
R12Q (p.Arg12Gln) variant details
- p.Arg12Gln
- TOPMed rs2039996059
- Missense
- Variant Prioritization Score for Impact Estimate 0.28
- REVEL 0.22
- ESM-1b 0.00
- AlphaMissense 0.23
- CADD 19.90
- PolyPhen-2 0.00
- SIFT 0.69
- Most common in the African/African-American population (allele frequency 3.1e-05)
- Structural context available