M118L (p.Met118Leu) variant of SLC25A20 (O43772)
M118L (p.Met118Leu) in SLC25A20 (O43772) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data and structural context.
M118L (p.Met118Leu) variant details
- p.Met118Leu
- 1000Genomes rs564673038
- ExAC rs564673038
- gnomAD rs564673038
- Missense
- Variant Prioritization Score for Impact Estimate 0.489
- REVEL 0.47
- MetaLR 0.30
- MetaSVM -0.66
- CADD 22.60
- PolyPhen-2 0.03
- SIFT 0.11
- Most common in the 1KG:PEL population (allele frequency 0.0059)
- Structural context available