V135M (p.Val135Met) variant of HSPG2 (P98160)
V135M (p.Val135Met) in HSPG2 (P98160) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Inborn genetic diseases. The record also includes variant effect predictions, population frequency data, and published literature.
V135M (p.Val135Met) variant details
- p.Val135Met
- rs199623122
- ClinGen CA673897
- ClinVar RCV002949739
- ClinVar RCV005351056
- Uncertain significance
- not provided; Inborn genetic diseases
- Missense
- REVEL 0.45
- CADD 26.50
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (not provided; Inborn genetic diseases)
- 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)