M328L (p.Met328Leu) variant of HNRNPA1 (P09651)
M328L (p.Met328Leu) in HNRNPA1 (P09651) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Relapsing remitting multiple sclerosis. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes structural context.
M328L (p.Met328Leu) variant details
- p.Met328Leu
- rs483353024
- ClinGen CA163050
- ClinVar RCV000122446
- Ensembl rs483353024
- Likely pathogenic
- Relapsing remitting multiple sclerosis
- Missense
- Variant Prioritization Score for Impact Estimate 0.645
- AlphaMissense 0.43
- MetaLR 0.76
- MetaSVM 0.16
- PolyPhen-2 0.65
- SIFT 0.05
- MutPred 0.40
- ClinVar: Likely pathogenic (Relapsing remitting multiple sclerosis)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available