R20K (p.Arg20Lys) variant of PLCG2 (P16885)
R20K (p.Arg20Lys) in PLCG2 (P16885) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes population frequency data, experimental measurements, and structural context.
R20K (p.Arg20Lys) variant details
- p.Arg20Lys
- rs1910955135
- ClinGen CA396895382
- ClinVar RCV001091767
- Ensembl rs1910955135
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.775
- CADD 25.30
- PolyPhen-2 0.82
- SIFT 0.10
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available
- PLCG2 SH3 domain domainome 1.0: score -0.287