S66L (p.Ser66Leu) variant of SPTB (Spectrin beta chain, erythrocytic)
S66L (p.Ser66Leu) 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 0.73 / 1. The record also includes population frequency data and published literature.
S66L (p.Ser66Leu) variant details
- p.Ser66Leu
- rs1242475998
- ClinGen CA390036110
- cosmic curated COSV67631
- ClinVar RCV002738888
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.734
- MetaLR 0.86
- MetaSVM 0.86
- CADD 25.50
- PolyPhen-2 0.53
- SIFT 0.03
- 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)