A43V (p.Ala43Val) variant of MOG (Q16653)
A43V (p.Ala43Val) in MOG (Q16653) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. 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.
A43V (p.Ala43Val) variant details
- p.Ala43Val
- NCI-TCGA Cosmic COSV6532
- cosmic curated COSV65321
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.408
- REVEL 0.33
- CADD 22.60
- PolyPhen-2 1.00
- SIFT 0.12
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available