S98T (p.Ser98Thr) variant of PKLR (Pyruvate kinase PKLR)
S98T (p.Ser98Thr) 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 not provided; Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data, published literature, and structural context.
S98T (p.Ser98Thr) variant details
- p.Ser98Thr
- rs1302535902
- ClinGen CA342756546
- ClinVar RCV002003104
- ClinVar RCV005382322
- Uncertain significance
- not provided; Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.657
- REVEL 0.70
- CADD 21.80
- PolyPhen-2 0.40
- SIFT 0.55
- ClinVar: Uncertain significance (not provided; Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 6.7e-05)
- 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)