R359P (p.Arg359Pro) variant of PKLR (Pyruvate kinase PKLR)
R359P (p.Arg359Pro) in PKLR (Pyruvate kinase PKLR) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Pyruvate kinase deficiency of red cells. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes structural context.
R359P (p.Arg359Pro) variant details
- p.Arg359Pro
- rs1376070580
- NCI-TCGA Cosmic COSV1007
- cosmic curated COSV10071
- NCI-TCGA Cosmic COSV6136
- Likely pathogenic
- Pyruvate kinase deficiency of red cells
- Missense
- Variant Prioritization Score for Impact Estimate 0.766
- AlphaMissense 0.23
- MetaLR 0.98
- MetaSVM 1.06
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.92
- ClinVar: Likely pathogenic (Pyruvate kinase deficiency of red cells)
- EBI: Likely pathogenic (in CNSHA2)
- UniProt: Likely pathogenic (in CNSHA2)
- Structural context available