G19D (p.Gly19Asp) variant of ACADVL (P49748)
G19D (p.Gly19Asp) in ACADVL (P49748) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data and structural context.
G19D (p.Gly19Asp) variant details
- p.Gly19Asp
- cosmic curated COSV57241
- ESP rs144036152
- ExAC rs144036152
- TOPMed rs144036152
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.207
- REVEL 0.28
- CADD 6.16
- PolyPhen-2 0.00
- SIFT 0.24
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available