R122K (p.Arg122Lys) variant of ETFA (P13804)
R122K (p.Arg122Lys) in ETFA (P13804) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Glutaric acidemia type 2A; 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, published literature, and structural context.
R122K (p.Arg122Lys) variant details
- p.Arg122Lys
- rs773865838
- ClinGen CA7673775
- cosmic curated COSV10508
- ClinVar RCV003475600
- Likely pathogenic
- Glutaric acidemia type 2A; Multiple acyl-CoA dehydrogenase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.88
- REVEL 0.92
- ESM-1b 1.00
- AlphaMissense 0.74
- CADD 27.50
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (Glutaric acidemia type 2A; Multiple acyl-CoA dehydrogenase defic)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the East Asian population (allele frequency 0.00038)
- Structural context available
- Cited in: Multiple Acyl-CoA Dehydrogenase Deficiency. (PMID 32550677)