R110Q (p.Arg110Gln) variant of SGCA (Alpha-sarcoglycan)
R110Q (p.Arg110Gln) 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 0.82 / 1. The record also includes population frequency data and structural context.
R110Q (p.Arg110Gln) variant details
- p.Arg110Gln
- rs145697858
- ClinGen CA8643771
- ClinVar RCV000597853
- ClinVar RCV000872896
- Conflicting interpretations
- not provided; not specified; Autosomal recessive limb-girdle muscular dystrophy
- Missense
- Variant Prioritization Score for Impact Estimate 0.816
- REVEL 0.78
- AlphaMissense 0.71
- MetaLR 0.96
- MetaSVM 1.08
- CADD 31.00
- PolyPhen-2 1.00
- ClinVar: Conflicting classifications of pathogenicity (not provided; not specified; Autosomal recessive limb-girdle mus)
- EBI: Benign
- UniProt: Benign
- Population evidence available
- Structural context available