T25M (p.Thr25Met) variant of ACADVL (P49748)
T25M (p.Thr25Met) in ACADVL (P49748) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data, published literature, and structural context.
T25M (p.Thr25Met) variant details
- p.Thr25Met
- rs781755362
- gnomAD 17-7217812-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.254
- AlphaMissense 0.95
- MetaLR 0.23
- MetaSVM -0.65
- CADD 6.33
- PolyPhen-2 1.00
- SIFT 0.06
- Most common in the HGDP:BEDOUIN population (allele frequency 0.012)
- Structural context available
- Literature evidence available