N20S (p.Asn20Ser) variant of SPTB (Spectrin beta chain, erythrocytic)
N20S (p.Asn20Ser) 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 Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data and published literature.
N20S (p.Asn20Ser) variant details
- p.Asn20Ser
- rs1306400678
- ClinGen CA390038362
- ClinVar RCV003342864
- gnomAD rs1306400678
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.381
- MetaLR 0.27
- MetaSVM -0.50
- CADD 22.80
- PolyPhen-2 0.37
- SIFT 0.01
- ClinVar: Uncertain significance (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)