P7H (p.Pro7His) variant of MOG (Q16653)
P7H (p.Pro7His) 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 0.17 / 1. The record also includes population frequency data and structural context.
P7H (p.Pro7His) variant details
- p.Pro7His
- ExAC rs774294291
- gnomAD rs774294291
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.166
- REVEL 0.01
- MetaLR 0.02
- MetaSVM -1.04
- CADD 13.70
- PolyPhen-2 0.03
- SIFT 0.06
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Structural context available