R85P (p.Arg85Pro) variant of ETFB (P38117)
R85P (p.Arg85Pro) in ETFB (P38117) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes structural context.
R85P (p.Arg85Pro) variant details
- p.Arg85Pro
- rs747881617
- ClinGen CA407082672
- ClinVar RCV003480339
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.644
- AlphaMissense 0.24
- MetaLR 0.77
- MetaSVM 0.69
- PolyPhen-2 1.00
- SIFT 0.06
- EVE 0.40
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available