V12M (p.Val12Met) variant of SGCA (Alpha-sarcoglycan)
V12M (p.Val12Met) 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; Autosomal recessive limb-girdle muscular dystrophy type 2D. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data and structural context.
V12M (p.Val12Met) variant details
- p.Val12Met
- rs766209304
- ClinGen CA8643645
- cosmic curated COSV10876
- ClinVar RCV000294427
- Conflicting interpretations
- not provided; Autosomal recessive limb-girdle muscular dystrophy type 2D
- Missense
- Variant Prioritization Score for Impact Estimate 0.22
- REVEL 0.32
- CADD 2.38
- PolyPhen-2 0.01
- SIFT 0.06
- ClinVar: Conflicting classifications of pathogenicity (not provided; Autosomal recessive limb-girdle muscular dystrophy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:KALASH population (allele frequency 0.024)
- Structural context available