V30M (p.Val30Met) variant of PLCG2 (P16885)
V30M (p.Val30Met) in PLCG2 (P16885) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data, experimental measurements, and structural context.
V30M (p.Val30Met) variant details
- p.Val30Met
- ESP rs372502550
- ExAC rs372502550
- TOPMed rs372502550
- gnomAD rs372502550
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.64
- CADD 23.30
- PolyPhen-2 0.34
- SIFT 0.06
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 2e-05)
- Structural context available
- PLCG2 SH3 domain domainome 1.0: score 0.0387