L57P (p.Leu57Pro) variant of ETFB (P38117)
L57P (p.Leu57Pro) in ETFB (P38117) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data and structural context.
L57P (p.Leu57Pro) variant details
- p.Leu57Pro
- ExAC rs752825481
- TOPMed rs752825481
- gnomAD rs752825481
- Missense
- Variant Prioritization Score for Impact Estimate 0.63
- REVEL 0.60
- CADD 29.40
- PolyPhen-2 0.85
- SIFT 0.13
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available