R336G (p.Arg336Gly) variant of HNRNPA1 (P09651)
R336G (p.Arg336Gly) in HNRNPA1 (P09651) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Chronic progressive multiple sclerosis. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes structural context.
R336G (p.Arg336Gly) variant details
- p.Arg336Gly
- rs483353032
- ClinGen CA163062
- ClinVar RCV000122450
- ExAC rs483353032
- Likely pathogenic
- Chronic progressive multiple sclerosis
- Missense
- Variant Prioritization Score for Impact Estimate 0.648
- AlphaMissense 0.59
- MetaLR 0.65
- MetaSVM 0.26
- PolyPhen-2 0.99
- SIFT 0.01
- MutPred 0.47
- ClinVar: Likely pathogenic (Chronic progressive multiple sclerosis)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available