L13I (p.Leu13Ile) variant of MOG (Q16653)
L13I (p.Leu13Ile) in MOG (Q16653) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.11 / 1. The record also includes population frequency data and structural context.
L13I (p.Leu13Ile) variant details
- p.Leu13Ile
- gnomAD rs1193618296
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.108
- REVEL 0.01
- MetaLR 0.03
- MetaSVM -1.04
- CADD 1.53
- PolyPhen-2 0.00
- SIFT 0.60
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 3.5e-05)
- Structural context available