N353D (p.Asn353Asp) variant of HNRNPA1 (P09651)
N353D (p.Asn353Asp) 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 0.45 / 1. The record also includes population frequency data and structural context.
N353D (p.Asn353Asp) variant details
- p.Asn353Asp
- rs483353039
- ClinGen CA163080
- ClinVar RCV000122456
- Ensembl rs483353039
- Likely pathogenic
- Chronic progressive multiple sclerosis
- Missense
- Variant Prioritization Score for Impact Estimate 0.453
- REVEL 0.35
- CADD 24.80
- PolyPhen-2 0.04
- SIFT 0.01
- ClinVar: Likely pathogenic (Chronic progressive multiple sclerosis)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available