P30S (p.Pro30Ser) variant of SGCA (Alpha-sarcoglycan)
P30S (p.Pro30Ser) 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 0.45 / 1. The record also includes population frequency data and structural context.
P30S (p.Pro30Ser) variant details
- p.Pro30Ser
- rs1327595249
- ClinGen CA400176582
- cosmic curated COSV10456
- ClinVar RCV000531212
- Likely pathogenic
- Autosomal recessive limb-girdle muscular dystrophy type 2D
- Missense
- Variant Prioritization Score for Impact Estimate 0.452
- REVEL 0.42
- CADD 19.50
- PolyPhen-2 0.24
- SIFT 0.01
- 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 Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available