E4D (p.Glu4Asp) variant of SGCD (Delta-sarcoglycan)
E4D (p.Glu4Asp) in SGCD (Delta-sarcoglycan) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign/likely benign in the context of not specified; Qualitative or quantitative defects of delta-sarcoglycan; not pro. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data, published literature, and structural context.
E4D (p.Glu4Asp) variant details
- p.Glu4Asp
- rs549319429
- ClinGen CA308779
- ClinVar RCV000183899
- ClinVar RCV000389000
- Benign/Likely benign
- not specified; Qualitative or quantitative defects of delta-sarcoglycan; not pro
- Missense
- Variant Prioritization Score for Impact Estimate 0.348
- ESM-1b 0.00
- AlphaMissense 0.22
- MetaLR 0.53
- MetaSVM -0.47
- PolyPhen-2 0.02
- SIFT 0.01
- ClinVar: Benign/Likely benign (not specified; Qualitative or quantitative defects of delta-sarc)
- EBI: Benign
- UniProt: Benign
- Population evidence available
- Structural context available
- Cited in: HRS/EHRA expert consensus statement on the state of genetic testing for the channelopathies and cardiomyopathies: this… (PMID 21810866)