C109R (p.Cys109Arg) variant of ETFA (P13804)
C109R (p.Cys109Arg) in ETFA (P13804) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes population frequency data and structural context.
C109R (p.Cys109Arg) variant details
- p.Cys109Arg
- TOPMed rs1477959786
- gnomAD rs1477959786
- Missense
- Variant Prioritization Score for Impact Estimate 0.808
- REVEL 0.88
- ESM-1b 1.00
- AlphaMissense 0.99
- CADD 28.10
- PolyPhen-2 0.70
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available