M118I (p.Met118Ile) variant of SLC25A20 (O43772)
M118I (p.Met118Ile) in SLC25A20 (O43772) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data and structural context.
M118I (p.Met118Ile) variant details
- p.Met118Ile
- TOPMed rs1371755364
- gnomAD rs1371755364
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.659
- REVEL 0.68
- MetaLR 0.44
- MetaSVM -0.28
- CADD 22.40
- PolyPhen-2 0.44
- SIFT 0.04
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 6.6e-05)
- Structural context available