V60L (p.Val60Leu) variant of ETFDH (Q16134)
V60L (p.Val60Leu) in ETFDH (Q16134) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data, published literature, and structural context.
V60L (p.Val60Leu) variant details
- p.Val60Leu
- gnomAD 4-158682197-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.412
- REVEL 0.38
- CADD 20.30
- PolyPhen-2 0.02
- SIFT 0.25
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- Literature evidence available