D20Y (p.Asp20Tyr) variant of SGCA (Alpha-sarcoglycan)
D20Y (p.Asp20Tyr) in SGCA (Alpha-sarcoglycan) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance 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 0.38 / 1. The record also includes population frequency data and structural context.
D20Y (p.Asp20Tyr) variant details
- p.Asp20Tyr
- rs759284746
- ClinGen CA400176375
- ClinVar RCV000729954
- ClinVar RCV001855744
- Uncertain significance
- not provided; Autosomal recessive limb-girdle muscular dystrophy type 2D
- Missense
- Variant Prioritization Score for Impact Estimate 0.38
- REVEL 0.38
- CADD 19.60
- PolyPhen-2 0.55
- SIFT 0.04
- ClinVar: Uncertain significance (not provided; Autosomal recessive limb-girdle muscular dystrophy)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the African/African-American population (allele frequency 7.2e-05)
- Structural context available