R22H (p.Arg22His) variant of SPTB (Spectrin beta chain, erythrocytic)
R22H (p.Arg22His) in SPTB (Spectrin beta chain, erythrocytic) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Inborn genetic diseases; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data and published literature.
R22H (p.Arg22His) variant details
- p.Arg22His
- rs200116664
- ClinGen CA7231555
- ClinVar RCV003138763
- ClinVar RCV004246068
- Conflicting interpretations
- Inborn genetic diseases; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.639
- MetaLR 0.48
- MetaSVM -0.02
- CADD 24.00
- PolyPhen-2 0.04
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (Inborn genetic diseases; not provided)
- 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)