R21L (p.Arg21Leu) variant of ETFB (P38117)
R21L (p.Arg21Leu) in ETFB (P38117) 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 0.69 / 1. The record also includes population frequency data and structural context.
R21L (p.Arg21Leu) variant details
- p.Arg21Leu
- cosmic curated COSV58536
- ESP rs369216610
- ExAC rs369216610
- TOPMed rs369216610
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.689
- REVEL 0.82
- CADD 25.90
- PolyPhen-2 0.91
- SIFT 0.01
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available