R77W (p.Arg77Trp) variant of SPTBN2 (O15020)
R77W (p.Arg77Trp) in SPTBN2 (O15020) 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 0.61 / 1. The record also includes population frequency data and published literature.
R77W (p.Arg77Trp) variant details
- p.Arg77Trp
- rs200956071
- ClinGen CA243402
- ClinVar RCV000177266
- ClinVar RCV003278678
- Conflicting interpretations
- Inborn genetic diseases; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.613
- REVEL 0.47
- CADD 29.60
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (Inborn genetic diseases; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:CHS population (allele frequency 0.0049)
- 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)