P30R (p.Pro30Arg) variant of LAG3 (P18627)
P30R (p.Pro30Arg) 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 0.05 / 1. The record also includes population frequency data and structural context.
P30R (p.Pro30Arg) variant details
- p.Pro30Arg
- rs369567695
- ClinGen CA6415174
- ClinVar RCV004407178
- ESP rs369567695
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.0466
- REVEL 0.01
- CADD 4.85
- PolyPhen-2 0.00
- SIFT 0.23
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Ashkenazi Jewish population (allele frequency 0.0012)
- Structural context available