I77F (p.Ile77Phe) variant of GNAT1 (P11488)
I77F (p.Ile77Phe) 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.
I77F (p.Ile77Phe) variant details
- p.Ile77Phe
- rs764511104
- ClinGen CA2412485
- ClinVar RCV001961109
- ExAC rs764511104
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.71
- REVEL 0.80
- CADD 23.10
- PolyPhen-2 0.32
- SIFT 0.10
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00019)
- Structural context available