H8Y (p.His8Tyr) variant of SGCD (Delta-sarcoglycan)
H8Y (p.His8Tyr) in SGCD (Delta-sarcoglycan) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Dilated cardiomyopathy 1L; Autosomal recessive limb-girdle muscular dystrophy ty. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
H8Y (p.His8Tyr) variant details
- p.His8Tyr
- rs1320640424
- ClinGen CA362007542
- cosmic curated COSV61918
- ClinVar RCV000845425
- Uncertain significance
- Dilated cardiomyopathy 1L; Autosomal recessive limb-girdle muscular dystrophy ty
- Missense
- Variant Prioritization Score for Impact Estimate 0.337
- ESM-1b 0.00
- AlphaMissense 0.10
- MetaLR 0.45
- MetaSVM -0.35
- PolyPhen-2 0.23
- SIFT 0.30
- ClinVar: Uncertain significance (Dilated cardiomyopathy 1L; Autosomal recessive limb-girdle muscu)
- 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)