M28L (p.Met28Leu) variant of PLCG2 (P16885)
M28L (p.Met28Leu) in PLCG2 (P16885) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign/likely benign in the context of not specified; Familial cold autoinflammatory syndrome 3; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data, experimental measurements, and structural context.
M28L (p.Met28Leu) variant details
- p.Met28Leu
- rs61749044
- ClinGen CA8193019
- ClinVar RCV000551682
- ClinVar RCV001700399
- Benign/Likely benign
- not specified; Familial cold autoinflammatory syndrome 3; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.632
- CADD 24.30
- PolyPhen-2 0.81
- SIFT 0.32
- ClinVar: Benign/Likely benign (not specified; Familial cold autoinflammatory syndrome 3; not pr)
- EBI: Benign
- UniProt: Benign
- Most common in the HGDP:FRENCH population (allele frequency 0.056)
- Structural context available
- PLCG2 SH3 domain domainome 1.0: score -0.793