S55R (p.Ser55Arg) variant of PLCG2 (P16885)
S55R (p.Ser55Arg) in PLCG2 (P16885) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data, experimental measurements, and structural context.
S55R (p.Ser55Arg) variant details
- p.Ser55Arg
- ExAC rs773671139
- TOPMed rs773671139
- gnomAD rs773671139
- Missense
- Variant Prioritization Score for Impact Estimate 0.402
- CADD 22.80
- PolyPhen-2 0.46
- SIFT 0.07
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available
- PLCG2 SH3 domain domainome 1.0: score -0.287