T74M (p.Thr74Met) variant of ETFB (P38117)
T74M (p.Thr74Met) in ETFB (P38117) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data and structural context.
T74M (p.Thr74Met) variant details
- p.Thr74Met
- cosmic curated COSV10963
- TOPMed rs1286614299
- Missense
- Variant Prioritization Score for Impact Estimate 0.681
- REVEL 0.69
- CADD 25.60
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the REMAINING population (allele frequency 5e-05)
- Structural context available