L7F (p.Leu7Phe) variant of ETFB (P38117)
L7F (p.Leu7Phe) in ETFB (P38117) is a missense change. Clinical records from ClinVar 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 0.74 / 1. The record also includes population frequency data and structural context.
L7F (p.Leu7Phe) variant details
- p.Leu7Phe
- TOPMed rs1459444364
- gnomAD rs1459444364
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.741
- REVEL 0.71
- CADD 28.00
- PolyPhen-2 0.76
- SIFT 0.01
- ClinVar: Uncertain significance (not provided)
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 6e-05)
- Structural context available