P30L (p.Pro30Leu) variant of LAG3 (P18627)
P30L (p.Pro30Leu) 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 0.05 / 1. The record also includes population frequency data and structural context.
P30L (p.Pro30Leu) variant details
- p.Pro30Leu
- cosmic curated COSV52568
- ESP rs369567695
- ExAC rs369567695
- TOPMed rs369567695
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.0474
- REVEL 0.02
- CADD 4.86
- PolyPhen-2 0.01
- SIFT 0.05
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available