G71S (p.Gly71Ser) variant of GNAT1 (P11488)
G71S (p.Gly71Ser) in GNAT1 (P11488) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data and structural context.
G71S (p.Gly71Ser) variant details
- p.Gly71Ser
- ExAC rs767935708
- gnomAD rs767935708
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.504
- REVEL 0.37
- CADD 18.60
- PolyPhen-2 0.02
- SIFT 1.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:MSL population (allele frequency 0.013)
- Structural context available