P205S (p.Pro205Ser) variant of SGCA (Alpha-sarcoglycan)
P205S (p.Pro205Ser) in SGCA (Alpha-sarcoglycan) is a missense change. Clinical records from ClinVar and UniProt describe it as pathogenic in the context of Autosomal recessive limb-girdle muscular dystrophy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes population frequency data and structural context.
P205S (p.Pro205Ser) variant details
- p.Pro205Ser
- gnomAD rs1265818021
- Pathogenic
- Autosomal recessive limb-girdle muscular dystrophy
- Missense
- Variant Prioritization Score for Impact Estimate 0.801
- REVEL 0.81
- CADD 25.70
- PolyPhen-2 0.99
- SIFT 0.03
- ClinVar: Pathogenic (Autosomal recessive limb-girdle muscular dystrophy)
- UniProt: Pathogenic (in LGMDR3)
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available