R42W (p.Arg42Trp) variant of MOG (Q16653)
R42W (p.Arg42Trp) 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 0.35 / 1. The record also includes population frequency data and structural context.
R42W (p.Arg42Trp) variant details
- p.Arg42Trp
- rs761804456
- NCI-TCGA Cosmic COSV1009
- cosmic curated COSV10097
- ExAC rs761804456
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.351
- REVEL 0.29
- CADD 23.00
- PolyPhen-2 0.91
- SIFT 0.17
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Latino/Admixed American population (allele frequency 0.00016)
- Structural context available