T7A (p.Thr7Ala) variant of SGCD (Delta-sarcoglycan)
T7A (p.Thr7Ala) 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; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
T7A (p.Thr7Ala) variant details
- p.Thr7Ala
- rs1554094932
- ClinGen CA362007536
- ClinVar RCV000593101
- ClinVar RCV005480413
- Uncertain significance
- Inborn genetic diseases; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.307
- ESM-1b 0.00
- AlphaMissense 0.07
- MetaLR 0.33
- MetaSVM -0.85
- PolyPhen-2 0.00
- SIFT 0.44
- ClinVar: Uncertain significance (Inborn genetic diseases; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- 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)