M38V (p.Met38Val) variant of ETFB (P38117)
M38V (p.Met38Val) in ETFB (P38117) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data and structural context.
M38V (p.Met38Val) variant details
- p.Met38Val
- ExAC rs760800809
- TOPMed rs760800809
- gnomAD rs760800809
- Missense
- Variant Prioritization Score for Impact Estimate 0.577
- REVEL 0.68
- CADD 23.30
- PolyPhen-2 0.15
- SIFT 0.03
- Most common in the REMAINING population (allele frequency 5e-05)
- Structural context available