M38L (p.Met38Leu) variant of ETFB (P38117)
M38L (p.Met38Leu) in ETFB (P38117) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data and structural context.
M38L (p.Met38Leu) variant details
- p.Met38Leu
- ExAC rs760800809
- TOPMed rs760800809
- gnomAD rs760800809
- Missense
- Variant Prioritization Score for Impact Estimate 0.486
- REVEL 0.52
- CADD 22.70
- PolyPhen-2 0.09
- SIFT 0.08
- Most common in the South Asian population (allele frequency 0.00013)
- Structural context available