A78S (p.Ala78Ser) variant of ETFB (P38117)
A78S (p.Ala78Ser) in ETFB (P38117) is a missense change. Clinical records from EBI and UniProt describe it as likely pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data and structural context.
A78S (p.Ala78Ser) variant details
- p.Ala78Ser
- 1000Genomes rs548046212
- ExAC rs548046212
- TOPMed rs548046212
- gnomAD rs548046212
- Likely pathogenic
- Missense
- Variant Prioritization Score for Impact Estimate 0.726
- REVEL 0.77
- CADD 24.50
- PolyPhen-2 0.84
- SIFT 0.02
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available