L44P (p.Leu44Pro) variant of MOG (Q16653)
L44P (p.Leu44Pro) 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 0.41 / 1. The record also includes population frequency data and structural context.
L44P (p.Leu44Pro) variant details
- p.Leu44Pro
- rs2481384823
- ClinGen CA363038668
- ClinVar RCV004483246
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.408
- REVEL 0.29
- CADD 18.80
- PolyPhen-2 0.98
- SIFT 0.12
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available