E113K (p.Glu113Lys) variant of HSPG2 (P98160)
E113K (p.Glu113Lys) 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; Schwartz-Jampel syndrome; Chromosome 1p36 deletion synd. The record also includes variant effect predictions, population frequency data, and published literature.
E113K (p.Glu113Lys) variant details
- p.Glu113Lys
- rs144511257
- ClinGen CA673937
- ClinVar RCV001098550
- ClinVar RCV001098551
- Uncertain significance
- Inborn genetic diseases; Schwartz-Jampel syndrome; Chromosome 1p36 deletion synd
- Missense
- REVEL 0.14
- CADD 23.50
- PolyPhen-2 0.01
- SIFT 0.05
- ClinVar: Uncertain significance (Inborn genetic diseases; Schwartz-Jampel syndrome; Chromosome 1p)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Cited in: Noninvasive prenatal screening for fetal aneuploidy, 2016 update: a position statement of the American College of… (PMID 27467454)
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)