V83M (p.Val83Met) variant of PKLR (Pyruvate kinase PKLR)
V83M (p.Val83Met) in PKLR (Pyruvate kinase PKLR) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data, published literature, and structural context.
V83M (p.Val83Met) variant details
- p.Val83Met
- rs368492204
- ESP rs368492204
- ExAC rs368492204
- TOPMed rs368492204
- Uncertain significance
- Inborn genetic diseases; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.464
- REVEL 0.32
- CADD 7.94
- PolyPhen-2 0.00
- SIFT 0.18
- ClinVar: Uncertain significance (Inborn genetic diseases; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)
- Cited in: Including the initial newborn screening bloodspot collection device serial number on birth certificates: basis and… (PMID 23037933)