F37L (p.Phe37Leu) variant of SGCD (Delta-sarcoglycan)
F37L (p.Phe37Leu) 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.
F37L (p.Phe37Leu) variant details
- p.Phe37Leu
- rs750206304
- ClinGen CA130594220
- ClinVar RCV002595557
- ClinVar RCV004963460
- Uncertain significance
- Autosomal recessive limb-girdle muscular dystrophy type 2F; Inborn genetic disea
- Missense
- Variant Prioritization Score for Impact Estimate 0.5
- ESM-1b 0.25
- AlphaMissense 0.93
- MetaLR 0.73
- MetaSVM 0.32
- PolyPhen-2 0.56
- SIFT 0.45
- 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)