V46I (p.Val46Ile) variant of GNAT1 (P11488)
V46I (p.Val46Ile) 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 0.47 / 1. The record also includes population frequency data and structural context.
V46I (p.Val46Ile) variant details
- p.Val46Ile
- rs764910362
- ClinGen CA2412457
- ClinVar RCV002020824
- ExAC rs764910362
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.467
- AlphaMissense 0.40
- MetaLR 0.50
- MetaSVM 0.01
- PolyPhen-2 0.93
- SIFT 0.00
- EVE 0.18
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available