A50G (p.Ala50Gly) variant of SGCD (Delta-sarcoglycan)
A50G (p.Ala50Gly) in SGCD (Delta-sarcoglycan) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data and structural context.
A50G (p.Ala50Gly) variant details
- p.Ala50Gly
- rs367557986
- NCI-TCGA TCGA novel
- cosmic curated COSV10055
- ESP rs367557986
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.374
- AlphaMissense 0.07
- MetaLR 0.43
- MetaSVM -0.56
- PolyPhen-2 0.00
- SIFT 0.07
- UniProt: Variant assessed as somatic; moderate impact.
- Population evidence available
- Structural context available