Q18H (p.Gln18His) variant of SPTBN2 (O15020)
Q18H (p.Gln18His) in SPTBN2 (O15020) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not provided; Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data and published literature.
Q18H (p.Gln18His) variant details
- p.Gln18His
- rs377573278
- ClinGen CA6129780
- ClinVar RCV002999464
- ClinVar RCV004963340
- Conflicting interpretations
- not provided; Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.273
- REVEL 0.15
- CADD 24.30
- PolyPhen-2 0.97
- SIFT 0.02
- ClinVar: Conflicting classifications of pathogenicity (not provided; Inborn genetic diseases)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Latino/Admixed American population (allele frequency 4.5e-05)
- 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)