V33A (p.Val33Ala) variant of GYS2 (P54840)
V33A (p.Val33Ala) 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 0.44 / 1. The record also includes population frequency data, published literature, and structural context.
V33A (p.Val33Ala) variant details
- p.Val33Ala
- rs753050580
- ClinGen CA6480283
- ClinVar RCV004388764
- ExAC rs753050580
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.442
- REVEL 0.33
- ESM-1b 1.00
- AlphaMissense 0.44
- CADD 22.90
- PolyPhen-2 0.42
- SIFT 0.11
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 0.00017)
- 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)