L99W (p.Leu99Trp) variant of ETFB (P38117)
L99W (p.Leu99Trp) in ETFB (P38117) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes population frequency data, published literature, and structural context.
L99W (p.Leu99Trp) variant details
- p.Leu99Trp
- gnomAD 19-51353211-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.743
- REVEL 0.82
- CADD 27.50
- PolyPhen-2 0.98
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available