I26F (p.Ile26Phe) variant of SGCD (Delta-sarcoglycan)
I26F (p.Ile26Phe) 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 0.72 / 1. The record also includes published literature and structural context.
I26F (p.Ile26Phe) variant details
- p.Ile26Phe
- rs373824540
- ClinGen CA362007652
- ClinVar RCV002419136
- ClinVar RCV003138233
- Uncertain significance
- Inborn genetic diseases; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.723
- ESM-1b 1.00
- AlphaMissense 0.44
- MetaLR 0.84
- MetaSVM 0.73
- PolyPhen-2 0.56
- SIFT 0.14
- ClinVar: Uncertain significance (Inborn genetic diseases; not provided)
- 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)