Y347C (p.Tyr347Cys) variant of HNRNPA1 (P09651)
Y347C (p.Tyr347Cys) 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 0.53 / 1. The record also includes structural context.
Y347C (p.Tyr347Cys) variant details
- p.Tyr347Cys
- rs483353034
- ClinGen CA163068
- ClinVar RCV000122452
- Ensembl rs483353034
- Likely pathogenic
- Chronic progressive multiple sclerosis
- Missense
- Variant Prioritization Score for Impact Estimate 0.532
- AlphaMissense 0.21
- MetaLR 0.64
- MetaSVM -0.06
- PolyPhen-2 0.79
- SIFT 0.01
- MutPred 0.47
- ClinVar: Likely pathogenic (Chronic progressive multiple sclerosis)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available