T74K (p.Thr74Lys) variant of ETFB (P38117)
T74K (p.Thr74Lys) in ETFB (P38117) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes population frequency data and structural context.
T74K (p.Thr74Lys) variant details
- p.Thr74Lys
- TOPMed rs1286614299
- Missense
- Variant Prioritization Score for Impact Estimate 0.791
- REVEL 0.88
- CADD 25.60
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available