S6G (p.Ser6Gly) variant of GNAT1 (P11488)
S6G (p.Ser6Gly) 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 0.69 / 1. The record also includes population frequency data and structural context.
S6G (p.Ser6Gly) variant details
- p.Ser6Gly
- rs780667765
- ClinGen CA2412419
- ClinVar RCV001317593
- ExAC rs780667765
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.693
- REVEL 0.73
- CADD 26.60
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available