L27V (p.Leu27Val) variant of ACADVL (P49748)
L27V (p.Leu27Val) in ACADVL (P49748) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data, published literature, and structural context.
L27V (p.Leu27Val) variant details
- p.Leu27Val
- gnomAD 17-7220138-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.132
- REVEL 0.12
- CADD 3.61
- PolyPhen-2 0.00
- SIFT 0.29
- Most common in the Non-Finnish European population (allele frequency 9.2e-07)
- Structural context available
- Literature evidence available