R89H (p.Arg89His) variant of SPTBN2 (O15020)
R89H (p.Arg89His) in SPTBN2 (O15020) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified; not provided; Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data and published literature.
R89H (p.Arg89His) variant details
- p.Arg89His
- rs374485184
- ClinGen CA6129721
- NCI-TCGA Cosmic COSV5944
- cosmic curated COSV59446
- Uncertain significance
- not specified; not provided; Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.505
- REVEL 0.38
- CADD 25.70
- PolyPhen-2 0.99
- SIFT 0.01
- ClinVar: Uncertain significance (not specified; not provided; Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Middle Eastern population (allele frequency 0.00017)
- 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)