Y6H (p.Tyr6His) variant of SGCD (Delta-sarcoglycan)
Y6H (p.Tyr6His) in SGCD (Delta-sarcoglycan) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Autosomal recessive limb-girdle muscular dystrophy type 2F; Inborn genetic disea. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data, published literature, and structural context.
Y6H (p.Tyr6His) variant details
- p.Tyr6His
- rs1561633494
- ClinGen CA362007527
- ClinVar RCV000685017
- ClinVar RCV003163092
- Uncertain significance
- Autosomal recessive limb-girdle muscular dystrophy type 2F; Inborn genetic disea
- Missense
- Variant Prioritization Score for Impact Estimate 0.501
- ESM-1b 0.12
- AlphaMissense 0.23
- MetaLR 0.73
- MetaSVM 0.43
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Uncertain significance (Autosomal recessive limb-girdle muscular dystrophy type 2F; Inbo)
- 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)