S337G (p.Ser337Gly) variant of HNRNPA1 (P09651)
S337G (p.Ser337Gly) 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 0.43 / 1. The record also includes structural context.
S337G (p.Ser337Gly) variant details
- p.Ser337Gly
- rs483353033
- ClinGen CA163065
- ClinVar RCV000122451
- Ensembl rs483353033
- Likely pathogenic
- Chronic progressive multiple sclerosis
- Missense
- Variant Prioritization Score for Impact Estimate 0.431
- AlphaMissense 0.13
- MetaLR 0.42
- MetaSVM -0.46
- PolyPhen-2 0.12
- SIFT 0.04
- MutPred 0.27
- ClinVar: Likely pathogenic (Chronic progressive multiple sclerosis)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available