R34S (p.Arg34Ser) variant of SGCA (Alpha-sarcoglycan)
R34S (p.Arg34Ser) 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 0.67 / 1. The record also includes structural context.
R34S (p.Arg34Ser) variant details
- p.Arg34Ser
- rs758647756
- ClinGen CA400176636
- NCI-TCGA Cosmic COSV1000
- ClinVar RCV002019675
- Likely pathogenic
- Autosomal recessive limb-girdle muscular dystrophy type 2D
- Missense
- Variant Prioritization Score for Impact Estimate 0.67
- AlphaMissense 0.35
- MetaLR 0.94
- MetaSVM 1.00
- PolyPhen-2 1.00
- SIFT 0.12
- EVE 0.14
- ClinVar: Likely pathogenic (Autosomal recessive limb-girdle muscular dystrophy type 2D)
- EBI: Pathogenic (in LGMDR3)
- UniProt: Pathogenic (in LGMDR3)
- Structural context available