L15M (p.Leu15Met) variant of SLC25A20 (O43772)
L15M (p.Leu15Met) in SLC25A20 (O43772) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data and structural context.
L15M (p.Leu15Met) variant details
- p.Leu15Met
- ExAC rs763244156
- gnomAD rs763244156
- Missense
- Variant Prioritization Score for Impact Estimate 0.444
- REVEL 0.47
- MetaLR 0.55
- MetaSVM 0.04
- CADD 25.20
- PolyPhen-2 0.86
- SIFT 0.04
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available