P205L (p.Pro205Leu) variant of SGCA (Alpha-sarcoglycan)
P205L (p.Pro205Leu) in SGCA (Alpha-sarcoglycan) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not provided; not specified; Autosomal recessive limb-girdle muscular dystrophy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data and structural context.
P205L (p.Pro205Leu) variant details
- p.Pro205Leu
- rs757481230
- ClinGen CA8643852
- ClinVar RCV000478809
- ClinVar RCV000984215
- Conflicting interpretations
- not provided; not specified; Autosomal recessive limb-girdle muscular dystrophy
- Missense
- Variant Prioritization Score for Impact Estimate 0.733
- REVEL 0.72
- CADD 25.10
- PolyPhen-2 0.29
- SIFT 0.04
- ClinVar: Conflicting classifications of pathogenicity (not provided; not specified; Autosomal recessive limb-girdle mus)
- EBI: Likely pathogenic (in LGMDR3)
- UniProt: Likely pathogenic (in LGMDR3)
- Most common in the South Asian population (allele frequency 2.3e-05)
- Structural context available