L18V (p.Leu18Val) variant of SGCA (Alpha-sarcoglycan)
L18V (p.Leu18Val) in SGCA (Alpha-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 2D. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes structural context.
L18V (p.Leu18Val) variant details
- p.Leu18Val
- rs1555568100
- ClinGen CA400176338
- ClinVar RCV000539687
- Ensembl rs1555568100
- Uncertain significance
- Autosomal recessive limb-girdle muscular dystrophy type 2D
- Missense
- Variant Prioritization Score for Impact Estimate 0.498
- AlphaMissense 0.09
- MetaLR 0.80
- MetaSVM 0.20
- PolyPhen-2 0.05
- SIFT 0.05
- EVE 0.11
- ClinVar: Uncertain significance (Autosomal recessive limb-girdle muscular dystrophy type 2D)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available