L5P (p.Leu5Pro) variant of ETFDH (Q16134)
L5P (p.Leu5Pro) in ETFDH (Q16134) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data and structural context.
L5P (p.Leu5Pro) variant details
- p.Leu5Pro
- Ensembl rs1773597000
- Missense
- Variant Prioritization Score for Impact Estimate 0.428
- REVEL 0.54
- CADD 18.30
- PolyPhen-2 0.10
- SIFT 0.08
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available