F36V (p.Phe36Val) variant of SGCA (Alpha-sarcoglycan)
F36V (p.Phe36Val) in SGCA (Alpha-sarcoglycan) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Autosomal recessive limb-girdle muscular dystrophy type 2D. The available variant effect predictions contribute to a CATVariant prioritization score of 0.91 / 1. The record also includes structural context.
F36V (p.Phe36Val) variant details
- p.Phe36Val
- rs1904989565
- ClinGen CA400176672
- ClinVar RCV001305064
- Ensembl rs1904989565
- Uncertain significance
- Autosomal recessive limb-girdle muscular dystrophy type 2D
- Missense
- Variant Prioritization Score for Impact Estimate 0.906
- AlphaMissense 0.76
- MetaLR 0.97
- MetaSVM 1.09
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.82
- ClinVar: Uncertain significance (Autosomal recessive limb-girdle muscular dystrophy type 2D)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available