P340A (p.Pro340Ala) variant of HNRNPA1 (P09651)
P340A (p.Pro340Ala) in HNRNPA1 (P09651) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Inclusion body myopathy with early-onset Paget disease with or without frontotem. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes published literature and structural context.
P340A (p.Pro340Ala) variant details
- p.Pro340Ala
- rs1592173638
- ClinGen CA385122454
- ClinVar RCV000789008
- Ensembl rs1592173638
- Likely pathogenic
- Inclusion body myopathy with early-onset Paget disease with or without frontotem
- Missense
- Variant Prioritization Score for Impact Estimate 0.644
- AlphaMissense 0.38
- MetaLR 0.75
- MetaSVM 0.18
- PolyPhen-2 0.99
- SIFT 0.01
- MutPred 0.44
- ClinVar: Likely pathogenic (Inclusion body myopathy with early-onset Paget disease with or w)
- EBI: Likely pathogenic (in ALS20)
- UniProt: Likely pathogenic (in ALS20)
- Structural context available
- Cited in: Inclusion Body Myopathy with Paget Disease of Bone and/or Frontotemporal Dementia. (PMID 20301649)