M51T (p.Met51Thr) variant of SGCD (Delta-sarcoglycan)
M51T (p.Met51Thr) 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 0.58 / 1. The record also includes population frequency data and structural context.
M51T (p.Met51Thr) variant details
- p.Met51Thr
- rs2127716699
- ClinGen CA362007807
- ClinVar RCV001940403
- Ensembl rs2127716699
- Uncertain significance
- Autosomal recessive limb-girdle muscular dystrophy type 2F
- Missense
- Variant Prioritization Score for Impact Estimate 0.576
- ESM-1b 0.49
- AlphaMissense 0.85
- MetaLR 0.67
- MetaSVM 0.34
- PolyPhen-2 0.89
- SIFT 0.00
- 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