E54K (p.Glu54Lys) variant of ETFB (P38117)
E54K (p.Glu54Lys) in ETFB (P38117) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes structural context.
E54K (p.Glu54Lys) variant details
- p.Glu54Lys
- rs796051954
- ClinGen CA312502
- ClinVar RCV000185878
- Ensembl rs796051954
- Likely pathogenic
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.827
- AlphaMissense 0.95
- MetaLR 0.83
- MetaSVM 0.85
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.66
- ClinVar: Likely pathogenic (not provided)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available