H29L (p.His29Leu) variant of SGCA (Alpha-sarcoglycan)
H29L (p.His29Leu) 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 0.38 / 1. The record also includes population frequency data and structural context.
H29L (p.His29Leu) variant details
- p.His29Leu
- rs1387802849
- ClinGen CA400176566
- ClinVar RCV000786065
- gnomAD rs1387802849
- Likely pathogenic
- Autosomal recessive limb-girdle muscular dystrophy type 2D
- Missense
- Variant Prioritization Score for Impact Estimate 0.384
- REVEL 0.36
- CADD 13.50
- PolyPhen-2 0.02
- SIFT 0.17
- ClinVar: Likely pathogenic (Autosomal recessive limb-girdle muscular dystrophy type 2D)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available