S21I (p.Ser21Ile) variant of ACADVL (P49748)
S21I (p.Ser21Ile) in ACADVL (P49748) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data, published literature, and structural context.
S21I (p.Ser21Ile) variant details
- p.Ser21Ile
- gnomAD 17-7220046-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.439
- REVEL 0.47
- CADD 19.00
- PolyPhen-2 0.27
- SIFT 0.09
- Population evidence available
- Structural context available
- Literature evidence available