V52G (p.Val52Gly) variant of SGCA (Alpha-sarcoglycan)
V52G (p.Val52Gly) in SGCA (Alpha-sarcoglycan) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Autosomal recessive limb-girdle muscular dystrophy type 2D. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data and structural context.
V52G (p.Val52Gly) variant details
- p.Val52Gly
- rs148132791
- ClinGen CA8643701
- ClinVar RCV000274468
- ClinVar RCV000693652
- Uncertain significance
- not provided; Autosomal recessive limb-girdle muscular dystrophy type 2D
- Missense
- Variant Prioritization Score for Impact Estimate 0.191
- REVEL 0.26
- CADD 5.64
- PolyPhen-2 0.00
- SIFT 0.30
- ClinVar: Uncertain significance (not provided; Autosomal recessive limb-girdle muscular dystrophy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 0.00012)
- Structural context available