V60M (p.Val60Met) variant of ETFDH (Q16134)
V60M (p.Val60Met) in ETFDH (Q16134) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data and structural context.
V60M (p.Val60Met) variant details
- p.Val60Met
- TOPMed rs1773876658
- Missense
- Variant Prioritization Score for Impact Estimate 0.429
- REVEL 0.40
- CADD 21.80
- PolyPhen-2 0.10
- SIFT 0.16
- Most common in the Non-Finnish European population (allele frequency 3.6e-06)
- Structural context available