S11N (p.Ser11Asn) variant of SGCD (Delta-sarcoglycan)
S11N (p.Ser11Asn) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data and structural context.
S11N (p.Ser11Asn) variant details
- p.Ser11Asn
- rs1449665448
- ClinGen CA362007561
- ClinVar RCV001308420
- TOPMed rs1449665448
- Uncertain significance
- Autosomal recessive limb-girdle muscular dystrophy type 2F
- Missense
- Variant Prioritization Score for Impact Estimate 0.286
- ESM-1b 0.00
- AlphaMissense 0.09
- MetaLR 0.24
- MetaSVM -0.71
- PolyPhen-2 0.00
- SIFT 0.45
- ClinVar: Uncertain significance (Autosomal recessive limb-girdle muscular dystrophy type 2F)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available