H81R (p.His81Arg) variant of ETFA (P13804)
H81R (p.His81Arg) in ETFA (P13804) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data and structural context.
H81R (p.His81Arg) variant details
- p.His81Arg
- TOPMed rs972293793
- gnomAD rs972293793
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.567
- REVEL 0.54
- ESM-1b 1.00
- AlphaMissense 0.22
- CADD 24.00
- PolyPhen-2 0.46
- SIFT 0.01
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Finnish in Finland (FIN) population (allele frequency 9.4e-05)
- Structural context available