L5V (p.Leu5Val) variant of SGCA (Alpha-sarcoglycan)
L5V (p.Leu5Val) 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 0.18 / 1. The record also includes population frequency data and structural context.
L5V (p.Leu5Val) variant details
- p.Leu5Val
- rs2144488329
- ClinGen CA400210586
- ClinVar RCV001981335
- Ensembl rs2144488329
- Uncertain significance
- Autosomal recessive limb-girdle muscular dystrophy type 2D
- Missense
- Variant Prioritization Score for Impact Estimate 0.181
- REVEL 0.09
- CADD 0.79
- PolyPhen-2 0.00
- SIFT 0.32
- ClinVar: Uncertain significance (Autosomal recessive limb-girdle muscular dystrophy type 2D)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available