L8V (p.Leu8Val) variant of ETFDH (Q16134)
L8V (p.Leu8Val) in ETFDH (Q16134) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data and structural context.
L8V (p.Leu8Val) variant details
- p.Leu8Val
- rs796051956
- ClinGen CA312517
- ClinVar RCV000185886
- TOPMed rs796051956
- Likely benign
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.25
- REVEL 0.17
- CADD 20.90
- PolyPhen-2 0.00
- SIFT 0.21
- ClinVar: Likely benign (not specified)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available