M42L (p.Met42Leu) variant of SGCD (Delta-sarcoglycan)
M42L (p.Met42Leu) 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 0.34 / 1. The record also includes population frequency data and structural context.
M42L (p.Met42Leu) variant details
- p.Met42Leu
- rs2127716663
- ClinGen CA362007743
- ClinVar RCV001966896
- Ensembl rs2127716663
- Uncertain significance
- Autosomal recessive limb-girdle muscular dystrophy type 2F
- Missense
- Variant Prioritization Score for Impact Estimate 0.339
- ESM-1b 0.00
- AlphaMissense 0.35
- MetaLR 0.57
- MetaSVM -0.15
- PolyPhen-2 0.01
- SIFT 0.75
- 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