M81T (p.Met81Thr) variant of HSPG2 (P98160)
M81T (p.Met81Thr) in HSPG2 (P98160) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases; not provided. The record also includes variant effect predictions, population frequency data, and published literature.
M81T (p.Met81Thr) variant details
- p.Met81Thr
- rs374829303
- ClinGen CA673971
- ClinVar RCV001765769
- ClinVar RCV002538853
- Uncertain significance
- Inborn genetic diseases; not provided
- Missense
- REVEL 0.26
- CADD 20.50
- PolyPhen-2 0.00
- SIFT 0.34
- ClinVar: Uncertain significance (Inborn genetic diseases; not provided)
- 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)