D47H (p.Asp47His) variant of MOG (Q16653)
D47H (p.Asp47His) in MOG (Q16653) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data, published literature, and structural context.
D47H (p.Asp47His) variant details
- p.Asp47His
- gnomAD 6-29659369-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.299
- REVEL 0.14
- CADD 23.00
- PolyPhen-2 0.96
- SIFT 0.09
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available