N7K (p.Asn7Lys) variant of TNFRSF9 (Q07011)
N7K (p.Asn7Lys) in TNFRSF9 (Q07011) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.06 / 1. The record also includes population frequency data and structural context.
N7K (p.Asn7Lys) variant details
- p.Asn7Lys
- rs1252718070
- ClinGen CA338161387
- ClinVar RCV001877715
- TOPMed rs1252718070
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.0645
- REVEL 0.05
- CADD 4.45
- PolyPhen-2 0.04
- SIFT 0.22
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.1e-05)
- Structural context available