P40T (p.Pro40Thr) variant of MOG (Q16653)
P40T (p.Pro40Thr) 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 0.40 / 1. The record also includes population frequency data and structural context.
P40T (p.Pro40Thr) variant details
- p.Pro40Thr
- rs563552917
- ClinGen CA3690382
- ClinVar RCV004329817
- ExAC rs563552917
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.404
- REVEL 0.32
- CADD 23.20
- PolyPhen-2 1.00
- SIFT 0.01
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available