P31H (p.Pro31His) variant of ACADVL (P49748)
P31H (p.Pro31His) in ACADVL (P49748) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
P31H (p.Pro31His) variant details
- p.Pro31His
- gnomAD 17-7220151-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.338
- REVEL 0.31
- CADD 18.60
- PolyPhen-2 0.75
- SIFT 0.06
- Population evidence available
- Structural context available
- Literature evidence available