P40S (p.Pro40Ser) variant of MOG (Q16653)
P40S (p.Pro40Ser) in MOG (Q16653) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data and structural context.
P40S (p.Pro40Ser) variant details
- p.Pro40Ser
- cosmic curated COSV65321
- ExAC rs563552917
- TOPMed rs563552917
- gnomAD rs563552917
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.347
- REVEL 0.22
- CADD 23.40
- PolyPhen-2 1.00
- SIFT 0.05
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available