L34P (p.Leu34Pro) variant of SGCD (Delta-sarcoglycan)
L34P (p.Leu34Pro) 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 0.95 / 1. The record also includes population frequency data and structural context.
L34P (p.Leu34Pro) variant details
- p.Leu34Pro
- rs1014551583
- ClinGen CA130594219
- ClinVar RCV001924090
- TOPMed rs1014551583
- Uncertain significance
- Autosomal recessive limb-girdle muscular dystrophy type 2F
- Missense
- Variant Prioritization Score for Impact Estimate 0.951
- ESM-1b 1.00
- AlphaMissense 1.00
- MetaLR 0.92
- MetaSVM 1.05
- PolyPhen-2 1.00
- 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