V3G (p.Val3Gly) variant of ETFDH (Q16134)
V3G (p.Val3Gly) in ETFDH (Q16134) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data, published literature, and structural context.
V3G (p.Val3Gly) variant details
- p.Val3Gly
- gnomAD 4-158672464-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.248
- REVEL 0.21
- CADD 12.50
- PolyPhen-2 0.01
- SIFT 0.19
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available