T156R (p.Thr156Arg) variant of ETFA (P13804)
T156R (p.Thr156Arg) 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 0.86 / 1. The record also includes population frequency data and structural context.
T156R (p.Thr156Arg) variant details
- p.Thr156Arg
- ExAC rs199597352
- TOPMed rs199597352
- gnomAD rs199597352
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.861
- REVEL 0.90
- ESM-1b 1.00
- AlphaMissense 0.39
- CADD 29.40
- PolyPhen-2 0.99
- SIFT 0.01
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Finnish in Finland (FIN) population (allele frequency 3.7e-05)
- Structural context available