D86N (p.Asp86Asn) variant of GYS2 (P54840)
D86N (p.Asp86Asn) 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 0.30 / 1. The record also includes population frequency data, published literature, and structural context.
D86N (p.Asp86Asn) variant details
- p.Asp86Asn
- rs1401658816
- ClinGen CA384139016
- ClinVar RCV004388758
- NCI-TCGA TCGA novel
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.305
- REVEL 0.23
- ESM-1b 0.00
- AlphaMissense 0.09
- CADD 22.70
- PolyPhen-2 0.06
- SIFT 0.11
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.9e-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)