N6S (p.Asn6Ser) variant of PLCG2 (P16885)
N6S (p.Asn6Ser) in PLCG2 (P16885) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Familial cold autoinflammatory syndrome 3. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data, experimental measurements, and structural context.
N6S (p.Asn6Ser) variant details
- p.Asn6Ser
- rs202002041
- ClinGen CA8193003
- ClinVar RCV003529076
- 1000Genomes rs202002041
- Uncertain significance
- Familial cold autoinflammatory syndrome 3
- Missense
- Variant Prioritization Score for Impact Estimate 0.233
- CADD 0.10
- PolyPhen-2 0.00
- SIFT 1.00
- ClinVar: Uncertain significance (Familial cold autoinflammatory syndrome 3)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:TSI population (allele frequency 0.0049)
- Structural context available
- PLCG2 SH3 domain domainome 1.0: score -0.935