Q102R (p.Gln102Arg) variant of ETFA (P13804)
Q102R (p.Gln102Arg) in ETFA (P13804) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data and structural context.
Q102R (p.Gln102Arg) variant details
- p.Gln102Arg
- TOPMed rs1401520139
- gnomAD rs1401520139
- Missense
- Variant Prioritization Score for Impact Estimate 0.493
- REVEL 0.36
- ESM-1b 1.00
- AlphaMissense 0.12
- CADD 22.90
- PolyPhen-2 0.02
- SIFT 0.09
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available