L2V (p.Leu2Val) variant of ETFDH (Q16134)
L2V (p.Leu2Val) in ETFDH (Q16134) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data, published literature, and structural context.
L2V (p.Leu2Val) variant details
- p.Leu2Val
- gnomAD 4-158672460-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.157
- REVEL 0.23
- CADD 0.04
- PolyPhen-2 0.01
- SIFT 0.30
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available