V134D (p.Val134Asp) variant of PKLR (Pyruvate kinase PKLR)
V134D (p.Val134Asp) in PKLR (Pyruvate kinase PKLR) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of PKLR-related disorder; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes population frequency data, published literature, and structural context.
V134D (p.Val134Asp) variant details
- p.Val134Asp
- rs574051756
- ExAC rs574051756
- TOPMed rs574051756
- gnomAD rs574051756
- Pathogenic/Likely pathogenic
- PKLR-related disorder; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.776
- REVEL 0.87
- CADD 27.60
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (PKLR-related disorder; not provided)
- EBI: Pathogenic (in CNSHA2)
- UniProt: Pathogenic (in CNSHA2)
- Most common in the Non-Finnish European population (allele frequency 5.9e-05)
- Structural context available
- Cited in: Analysis of pyruvate kinase-deficiency mutations that produce nonspherocytic hemolytic anemia. (PMID 8483951)
- Cited in: Hematologically important mutations: red cell pyruvate kinase (2nd update). (PMID 10087985)