R21G (p.Arg21Gly) variant of ETFB (P38117)
R21G (p.Arg21Gly) in ETFB (P38117) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data and structural context.
R21G (p.Arg21Gly) variant details
- p.Arg21Gly
- ESP rs374288379
- ExAC rs374288379
- TOPMed rs374288379
- gnomAD rs374288379
- Pathogenic
- Missense
- Variant Prioritization Score for Impact Estimate 0.719
- REVEL 0.86
- CADD 24.40
- PolyPhen-2 0.98
- SIFT 0.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available