V41I (p.Val41Ile) variant of HSPG2 (P98160)
V41I (p.Val41Ile) 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.
V41I (p.Val41Ile) variant details
- p.Val41Ile
- rs774480435
- ClinGen CA674025
- ClinVar RCV001870684
- ClinVar RCV004040479
- Uncertain significance
- Inborn genetic diseases; not provided
- Missense
- REVEL 0.05
- CADD 5.36
- PolyPhen-2 0.00
- SIFT 0.09
- 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)