G19S (p.Gly19Ser) variant of ACADVL (P49748)
G19S (p.Gly19Ser) in ACADVL (P49748) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data, published literature, and structural context.
G19S (p.Gly19Ser) variant details
- p.Gly19Ser
- gnomAD 17-7220039-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.15
- REVEL 0.19
- CADD 4.11
- PolyPhen-2 0.00
- SIFT 0.38
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available