L34H (p.Leu34His) variant of GNAT1 (P11488)
L34H (p.Leu34His) 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 0.81 / 1. The record also includes structural context.
L34H (p.Leu34His) variant details
- p.Leu34His
- rs2109137515
- ClinGen CA352909093
- ClinVar RCV002025294
- Ensembl rs2109137515
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.812
- AlphaMissense 1.00
- MetaLR 0.73
- MetaSVM 0.77
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.84
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available