K80E (p.Lys80Glu) variant of SPTB (Spectrin beta chain, erythrocytic)
K80E (p.Lys80Glu) in SPTB (Spectrin beta chain, erythrocytic) 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 0.53 / 1. The record also includes population frequency data and published literature.
K80E (p.Lys80Glu) variant details
- p.Lys80Glu
- rs747147135
- ClinGen CA7231506
- ClinVar RCV002261488
- ClinVar RCV003365720
- Uncertain significance
- not provided; Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.534
- MetaLR 0.49
- MetaSVM -0.46
- CADD 21.90
- PolyPhen-2 0.04
- SIFT 0.04
- ClinVar: Uncertain significance (not provided; Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence 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)