T37N (p.Thr37Asn) variant of PLCG2 (P16885)
T37N (p.Thr37Asn) in PLCG2 (P16885) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of Familial cold autoinflammatory syndrome 3; Autoinflammation-PLCG2-associated ant. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data, experimental measurements, and structural context.
T37N (p.Thr37Asn) variant details
- p.Thr37Asn
- rs147349332
- ClinGen CA8193029
- ClinVar RCV000887224
- ClinVar RCV002495368
- Likely benign
- Familial cold autoinflammatory syndrome 3; Autoinflammation-PLCG2-associated ant
- Missense
- Variant Prioritization Score for Impact Estimate 0.469
- CADD 17.40
- PolyPhen-2 0.00
- SIFT 0.14
- ClinVar: Likely benign (Familial cold autoinflammatory syndrome 3; Autoinflammation-PLCG)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the HGDP:MBUTI population (allele frequency 0.042)
- Structural context available
- PLCG2 SH3 domain domainome 1.0: score -0.301