L59P (p.Leu59Pro) variant of GNAT1 (P11488)
L59P (p.Leu59Pro) 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 0.45 / 1. The record also includes population frequency data and structural context.
L59P (p.Leu59Pro) variant details
- p.Leu59Pro
- rs2546144237
- ClinGen CA352912760
- ClinVar RCV003027430
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.453
- REVEL 0.35
- CADD 22.90
- PolyPhen-2 0.01
- SIFT 0.26
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:YAKUT population (allele frequency 0.04)
- Structural context available