M59I (p.Met59Ile) variant of SGCD (Delta-sarcoglycan)
M59I (p.Met59Ile) in SGCD (Delta-sarcoglycan) is a missense change. Clinical records from ClinVar 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 1.00 / 1. The record also includes population frequency data and structural context.
M59I (p.Met59Ile) variant details
- p.Met59Ile
- NCI-TCGA Cosmic COSV1005
- cosmic curated COSV10054
- TOPMed rs1768855804
- Uncertain significance
- Autosomal recessive limb-girdle muscular dystrophy type 2F
- Missense
- Variant Prioritization Score for Impact Estimate 0.997
- ESM-1b 1.00
- AlphaMissense 0.99
- ClinVar: Uncertain significance (Autosomal recessive limb-girdle muscular dystrophy type 2F)
- UniProt: Uncertain significance
- Population evidence available
- Structural context available