V66M (p.Val66Met) variant of MOG (Q16653)
V66M (p.Val66Met) 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 0.57 / 1. The record also includes population frequency data and structural context.
V66M (p.Val66Met) variant details
- p.Val66Met
- rs529478745
- ClinGen CA135965777
- ClinVar RCV004278154
- 1000Genomes rs529478745
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.567
- REVEL 0.50
- CADD 25.80
- PolyPhen-2 0.97
- SIFT 0.04
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:CHB population (allele frequency 0.0049)
- Structural context available