S21G (p.Ser21Gly) variant of ACADVL (P49748)
S21G (p.Ser21Gly) in ACADVL (P49748) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data, published literature, and structural context.
S21G (p.Ser21Gly) variant details
- p.Ser21Gly
- gnomAD 17-7220045-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.357
- REVEL 0.35
- CADD 18.90
- PolyPhen-2 0.07
- SIFT 0.11
- Population evidence available
- Structural context available
- Literature evidence available