R164L (p.Arg164Leu) variant of ETFB (P38117)
R164L (p.Arg164Leu) in ETFB (P38117) is a missense change. Clinical records from ClinVar and UniProt describe it as likely pathogenic in the context of Multiple acyl-CoA dehydrogenase deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.88 / 1. The record also includes population frequency data and structural context.
R164L (p.Arg164Leu) variant details
- p.Arg164Leu
- cosmic curated COSV10016
- Likely pathogenic
- Multiple acyl-CoA dehydrogenase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.882
- REVEL 0.94
- CADD 28.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (Multiple acyl-CoA dehydrogenase deficiency)
- UniProt: Likely pathogenic (in GA2B)
- Population evidence available
- Structural context available