R10Q (p.Arg10Gln) variant of SGCD (Delta-sarcoglycan)
R10Q (p.Arg10Gln) 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 0.40 / 1. The record also includes population frequency data, published literature, and structural context.
R10Q (p.Arg10Gln) variant details
- p.Arg10Gln
- rs752548592
- ClinGen CA302929
- NCI-TCGA Cosmic COSV6190
- cosmic curated COSV61903
- Uncertain significance
- Dilated cardiomyopathy 1L; Autosomal recessive limb-girdle muscular dystrophy ty
- Missense
- Variant Prioritization Score for Impact Estimate 0.396
- ESM-1b 0.00
- AlphaMissense 0.10
- MetaLR 0.63
- MetaSVM 0.00
- PolyPhen-2 1.00
- SIFT 0.34
- 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: Cardiomyopathy, familial dilated. (PMID 16839424)
- Cited in: Dilated Cardiomyopathy Overview. (PMID 20301486)