N353S (p.Asn353Ser) variant of HNRNPA1 (P09651)
N353S (p.Asn353Ser) 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 0.46 / 1. The record also includes structural context.
N353S (p.Asn353Ser) variant details
- p.Asn353Ser
- rs483353038
- ClinGen CA163083
- ClinVar RCV000122457
- Ensembl rs483353038
- Likely pathogenic
- Chronic progressive multiple sclerosis
- Missense
- Variant Prioritization Score for Impact Estimate 0.463
- AlphaMissense 0.09
- MetaLR 0.55
- MetaSVM -0.19
- PolyPhen-2 0.14
- SIFT 0.00
- MutPred 0.27
- ClinVar: Likely pathogenic (Chronic progressive multiple sclerosis)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available