L2M (p.Leu2Met) variant of ETFDH (Q16134)
L2M (p.Leu2Met) in ETFDH (Q16134) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data, published literature, and structural context.
L2M (p.Leu2Met) variant details
- p.Leu2Met
- gnomAD 4-158672460-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.183
- REVEL 0.28
- CADD 0.04
- PolyPhen-2 0.00
- SIFT 0.40
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available