N317D (p.Asn317Asp) variant of HNRNPA1 (P09651)
N317D (p.Asn317Asp) 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 0.42 / 1. The record also includes population frequency data and structural context.
N317D (p.Asn317Asp) variant details
- p.Asn317Asp
- rs483353023
- ClinGen CA163038
- ClinVar RCV000122442
- TOPMed rs483353023
- Likely pathogenic
- Chronic progressive multiple sclerosis
- Missense
- Variant Prioritization Score for Impact Estimate 0.421
- REVEL 0.29
- CADD 24.50
- PolyPhen-2 0.06
- SIFT 0.03
- ClinVar: Likely pathogenic (Chronic progressive multiple sclerosis)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available