A43V (p.Ala43Val) variant of HSPG2 (P98160)
A43V (p.Ala43Val) in HSPG2 (P98160) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The record also includes variant effect predictions, population frequency data, and published literature.
A43V (p.Ala43Val) variant details
- p.Ala43Val
- rs749042492
- ClinGen CA674023
- ClinVar RCV003300543
- ExAC rs749042492
- Uncertain significance
- Missense
- REVEL 0.07
- CADD 0.50
- PolyPhen-2 0.00
- SIFT 0.16
- 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)