P30A (p.Pro30Ala) variant of LAG3 (P18627)
P30A (p.Pro30Ala) 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 0.20 / 1. The record also includes population frequency data and structural context.
P30A (p.Pro30Ala) variant details
- p.Pro30Ala
- ExAC rs762024185
- TOPMed rs762024185
- gnomAD rs762024185
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.202
- REVEL 0.01
- CADD 0.39
- PolyPhen-2 0.01
- SIFT 0.07
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:PALESTINIAN population (allele frequency 0.013)
- Structural context available