G71C (p.Gly71Cys) variant of GNAT1 (P11488)
G71C (p.Gly71Cys) in GNAT1 (P11488) 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 0.71 / 1. The record also includes population frequency data and structural context.
G71C (p.Gly71Cys) variant details
- p.Gly71Cys
- rs767935708
- ClinGen CA2412482
- ClinVar RCV001373234
- ClinVar RCV004815488
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.705
- REVEL 0.65
- CADD 26.40
- PolyPhen-2 0.94
- SIFT 0.02
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available