S21R (p.Ser21Arg) variant of ACADVL (P49748)
S21R (p.Ser21Arg) in ACADVL (P49748) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data, published literature, and structural context.
S21R (p.Ser21Arg) variant details
- p.Ser21Arg
- gnomAD 17-7220122-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.278
- REVEL 0.24
- CADD 17.10
- PolyPhen-2 0.00
- SIFT 0.36
- Population evidence available
- Structural context available
- Literature evidence available