D97H (p.Asp97His) variant of SGCA (Alpha-sarcoglycan)
D97H (p.Asp97His) in SGCA (Alpha-sarcoglycan) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Autosomal recessive limb-girdle muscular dystrophy type 2D. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data and structural context.
D97H (p.Asp97His) variant details
- p.Asp97His
- rs774299871
- ClinGen CA8643743
- ClinVar RCV001221207
- ExAC rs774299871
- Likely pathogenic
- Autosomal recessive limb-girdle muscular dystrophy type 2D
- Missense
- Variant Prioritization Score for Impact Estimate 0.655
- REVEL 0.57
- CADD 25.40
- PolyPhen-2 1.00
- SIFT 0.11
- ClinVar: Likely pathogenic (Autosomal recessive limb-girdle muscular dystrophy type 2D)
- EBI: Likely pathogenic (in LGMDR3)
- UniProt: Likely pathogenic (in LGMDR3)
- Most common in the Non-Finnish European population (allele frequency 3.6e-06)
- Structural context available