R10G (p.Arg10Gly) variant of SGCD (Delta-sarcoglycan)
R10G (p.Arg10Gly) in SGCD (Delta-sarcoglycan) 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 0.47 / 1. The record also includes published literature and structural context.
R10G (p.Arg10Gly) variant details
- p.Arg10Gly
- rs566181541
- ClinGen CA362007556
- ClinVar RCV002322951
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.468
- ESM-1b 0.00
- AlphaMissense 0.26
- MetaLR 0.73
- MetaSVM 0.51
- PolyPhen-2 1.00
- SIFT 0.01
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)