P327S (p.Pro327Ser) variant of HNRNPA1 (P09651)
P327S (p.Pro327Ser) 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 0.70 / 1. The record also includes structural context.
P327S (p.Pro327Ser) variant details
- p.Pro327Ser
- rs483353029
- ClinGen CA163047
- ClinVar RCV000122445
- Ensembl rs483353029
- Likely pathogenic
- Chronic progressive multiple sclerosis
- Missense
- Variant Prioritization Score for Impact Estimate 0.696
- AlphaMissense 0.93
- MetaLR 0.69
- MetaSVM 0.62
- PolyPhen-2 1.00
- SIFT 0.03
- MutPred 0.35
- ClinVar: Likely pathogenic (Chronic progressive multiple sclerosis)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available