K55R (p.Lys55Arg) variant of ETFB (P38117)
K55R (p.Lys55Arg) in ETFB (P38117) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data and structural context.
K55R (p.Lys55Arg) variant details
- p.Lys55Arg
- TOPMed rs1465301474
- gnomAD rs1465301474
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.565
- REVEL 0.50
- CADD 28.10
- PolyPhen-2 0.67
- SIFT 0.06
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available