R20T (p.Arg20Thr) variant of PLCG2 (P16885)
R20T (p.Arg20Thr) in PLCG2 (P16885) 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 0.80 / 1. The record also includes population frequency data, experimental measurements, and structural context.
R20T (p.Arg20Thr) variant details
- p.Arg20Thr
- Ensembl rs1910955135
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.803
- CADD 28.70
- PolyPhen-2 0.91
- SIFT 0.01
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 5e-05)
- Structural context available
- PLCG2 SH3 domain domainome 1.0: score -0.287