L19V (p.Leu19Val) variant of ETFDH (Q16134)
L19V (p.Leu19Val) in ETFDH (Q16134) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data and structural context.
L19V (p.Leu19Val) variant details
- p.Leu19Val
- gnomAD rs1773824569
- Missense
- Variant Prioritization Score for Impact Estimate 0.266
- REVEL 0.25
- CADD 17.40
- PolyPhen-2 0.02
- SIFT 0.14
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available