L2P (p.Leu2Pro) variant of ETFDH (Q16134)
L2P (p.Leu2Pro) in ETFDH (Q16134) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data and structural context.
L2P (p.Leu2Pro) variant details
- p.Leu2Pro
- ExAC rs778020609
- gnomAD rs778020609
- Missense
- Variant Prioritization Score for Impact Estimate 0.166
- REVEL 0.13
- CADD 12.40
- PolyPhen-2 0.06
- SIFT 0.11
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available