L5P (p.Leu5Pro) variant of GNAI1 (P63096)
L5P (p.Leu5Pro) in GNAI1 (P63096) 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 0.55 / 1. The record also includes population frequency data and structural context.
L5P (p.Leu5Pro) variant details
- p.Leu5Pro
- rs1224009797
- ClinGen CA368010720
- ClinVar RCV001758457
- TOPMed rs1224009797
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.553
- CADD 23.70
- PolyPhen-2 0.01
- SIFT 0.23
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9.9e-07)
- Structural context available