L26Q (p.Leu26Gln) variant of ETFDH (Q16134)
L26Q (p.Leu26Gln) in ETFDH (Q16134) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data, published literature, and structural context.
L26Q (p.Leu26Gln) variant details
- p.Leu26Gln
- gnomAD 4-158680509-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.557
- REVEL 0.66
- CADD 20.60
- PolyPhen-2 0.03
- SIFT 0.18
- Most common in the Non-Finnish European population (allele frequency 9.1e-07)
- Structural context available
- Literature evidence available