D234N (p.Asp234Asn) variant of SGCA (Alpha-sarcoglycan)
D234N (p.Asp234Asn) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data and structural context.
D234N (p.Asp234Asn) variant details
- p.Asp234Asn
- rs760608643
- ClinGen CA246512
- NCI-TCGA Cosmic COSV5624
- ClinVar RCV000648057
- Likely pathogenic
- Autosomal recessive limb-girdle muscular dystrophy
- Missense
- Variant Prioritization Score for Impact Estimate 0.592
- REVEL 0.49
- CADD 23.00
- PolyPhen-2 0.19
- SIFT 0.12
- ClinVar: Likely pathogenic (Autosomal recessive limb-girdle muscular dystrophy)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the Latino/Admixed American population (allele frequency 6.6e-05)
- Structural context available