N332S (p.Asn332Ser) variant of HNRNPA1 (P09651)
N332S (p.Asn332Ser) 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 0.40 / 1. The record also includes population frequency data and structural context.
N332S (p.Asn332Ser) variant details
- p.Asn332Ser
- rs3207617
- ClinGen CA163056
- ClinVar RCV000122448
- Ensembl rs3207617
- Likely pathogenic
- Relapsing remitting multiple sclerosis
- Missense
- Variant Prioritization Score for Impact Estimate 0.4
- REVEL 0.26
- CADD 23.40
- PolyPhen-2 0.01
- SIFT 0.03
- ClinVar: Likely pathogenic (Relapsing remitting multiple sclerosis)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the South Asian population (allele frequency 2.3e-05)
- Structural context available