V116I (p.Val116Ile) variant of GYS2 (P54840)
V116I (p.Val116Ile) in GYS2 (P54840) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data, published literature, and structural context.
V116I (p.Val116Ile) variant details
- p.Val116Ile
- rs758582300
- ClinGen CA6480218
- ClinVar RCV002817658
- ExAC rs758582300
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.248
- REVEL 0.08
- ESM-1b 0.00
- AlphaMissense 0.07
- CADD 17.00
- PolyPhen-2 0.03
- SIFT 0.66
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 7.2e-05)
- Structural context 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)