I55V (p.Ile55Val) variant of MOG (Q16653)
I55V (p.Ile55Val) in MOG (Q16653) is a missense change. Clinical records from ClinVar, EBI, 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 0.24 / 1. The record also includes population frequency data and structural context.
I55V (p.Ile55Val) variant details
- p.Ile55Val
- rs200284390
- ClinGen CA3690392
- cosmic curated COSV65320
- ClinVar RCV004142673
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.243
- REVEL 0.09
- CADD 15.70
- PolyPhen-2 0.16
- SIFT 0.09
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:GWD population (allele frequency 0.0043)
- Structural context available