T77N (p.Thr77Asn) variant of ETFB (P38117)
T77N (p.Thr77Asn) in ETFB (P38117) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data and structural context.
T77N (p.Thr77Asn) variant details
- p.Thr77Asn
- TOPMed rs1299213601
- gnomAD rs1299213601
- Missense
- Variant Prioritization Score for Impact Estimate 0.613
- REVEL 0.59
- CADD 24.20
- PolyPhen-2 0.49
- SIFT 0.02
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available