K329N (p.Lys329Asn) variant of HNRNPA1 (P09651)
K329N (p.Lys329Asn) 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 0.59 / 1. The record also includes structural context.
K329N (p.Lys329Asn) variant details
- p.Lys329Asn
- rs483353030
- ClinGen CA163053
- ClinVar RCV000122447
- Ensembl rs483353030
- Likely pathogenic
- Chronic progressive multiple sclerosis
- Missense
- Variant Prioritization Score for Impact Estimate 0.588
- AlphaMissense 0.99
- MetaLR 0.74
- MetaSVM 0.01
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.32
- ClinVar: Likely pathogenic (Chronic progressive multiple sclerosis)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available