R92H (p.Arg92His) variant of HSPG2 (P98160)
R92H (p.Arg92His) in HSPG2 (P98160) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The record also includes variant effect predictions, population frequency data, and published literature.
R92H (p.Arg92His) variant details
- p.Arg92His
- rs554613529
- ClinGen CA673949
- NCI-TCGA Cosmic COSV6593
- ClinVar RCV003202649
- Likely benign
- Missense
- REVEL 0.17
- CADD 3.55
- PolyPhen-2 0.00
- SIFT 0.59
- EBI: Likely benign
- UniProt: Likely benign
- 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)