A75V (p.Ala75Val) variant of LAG3 (P18627)
A75V (p.Ala75Val) in LAG3 (P18627) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. 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.
A75V (p.Ala75Val) variant details
- p.Ala75Val
- 1000Genomes rs774677549
- ExAC rs774677549
- TOPMed rs774677549
- gnomAD rs774677549
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.0412
- REVEL 0.01
- CADD 3.76
- PolyPhen-2 0.00
- SIFT 0.27
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 0.00018)
- Structural context available