A75D (p.Ala75Asp) variant of LAG3 (P18627)
A75D (p.Ala75Asp) in LAG3 (P18627) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.04 / 1. The record also includes population frequency data and structural context.
A75D (p.Ala75Asp) variant details
- p.Ala75Asp
- rs774677549
- ClinGen CA6415213
- ClinVar RCV004194352
- 1000Genomes rs774677549
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.0425
- REVEL 0.01
- CADD 3.04
- PolyPhen-2 0.01
- SIFT 0.37
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:LWK population (allele frequency 0.0058)
- Structural context available