G46C (p.Gly46Cys) variant of SPTA1 (P02549)
G46C (p.Gly46Cys) in SPTA1 (P02549) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data.
G46C (p.Gly46Cys) variant details
- p.Gly46Cys
- rs1655082524
- ClinGen CA343026731
- ClinVar RCV003665831
- gnomAD rs1655082524
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.619
- CADD 25.90
- PolyPhen-2 0.95
- SIFT 0.01
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance (in EL2)
- UniProt: Uncertain significance (in EL2)
- Most common in the Latino/Admixed American population (allele frequency 6.6e-05)