P351L (p.Pro351Leu) variant of HNRNPA1 (P09651)
P351L (p.Pro351Leu) 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 0.52 / 1. The record also includes structural context.
P351L (p.Pro351Leu) variant details
- p.Pro351Leu
- rs483353036
- ClinGen CA163074
- ClinVar RCV000122454
- ExAC rs483353036
- Likely pathogenic
- Chronic progressive multiple sclerosis
- Missense
- Variant Prioritization Score for Impact Estimate 0.521
- AlphaMissense 0.68
- MetaLR 0.49
- MetaSVM -0.22
- PolyPhen-2 0.94
- SIFT 0.04
- MutPred 0.44
- ClinVar: Likely pathogenic (Chronic progressive multiple sclerosis)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available