R34L (p.Arg34Leu) variant of SGCA (Alpha-sarcoglycan)
R34L (p.Arg34Leu) in SGCA (Alpha-sarcoglycan) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic in the context of in LGMDR3. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data and structural context.
R34L (p.Arg34Leu) variant details
- p.Arg34Leu
- rs371675217
- NCI-TCGA Cosmic COSV5624
- cosmic curated COSV56249
- 1000Genomes rs371675217
- Pathogenic
- in LGMDR3
- Missense
- Variant Prioritization Score for Impact Estimate 0.516
- REVEL 0.64
- CADD 19.80
- PolyPhen-2 0.01
- SIFT 0.16
- EBI: Pathogenic (in LGMDR3)
- UniProt: Pathogenic (in LGMDR3)
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available