A4S (p.Ala4Ser) variant of ACADVL (P49748)
A4S (p.Ala4Ser) in ACADVL (P49748) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data, published literature, and structural context.
A4S (p.Ala4Ser) variant details
- p.Ala4Ser
- gnomAD 17-7219994-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.196
- REVEL 0.12
- CADD 15.10
- PolyPhen-2 0.00
- SIFT 0.14
- Population evidence available
- Structural context available
- Literature evidence available