A43T (p.Ala43Thr) variant of MOG (Q16653)
A43T (p.Ala43Thr) in MOG (Q16653) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data, published literature, and structural context.
A43T (p.Ala43Thr) variant details
- p.Ala43Thr
- gnomAD 6-29659357-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.548
- REVEL 0.48
- CADD 24.90
- PolyPhen-2 1.00
- SIFT 0.02
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available