N126K (p.Asn126Lys) variant of TNFRSF9 (Q07011)
N126K (p.Asn126Lys) in TNFRSF9 (Q07011) 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 0.29 / 1. The record also includes population frequency data and structural context.
N126K (p.Asn126Lys) variant details
- p.Asn126Lys
- ExAC rs765656918
- TOPMed rs765656918
- gnomAD rs765656918
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.286
- REVEL 0.41
- CADD 7.94
- PolyPhen-2 0.52
- SIFT 0.03
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the HGDP:YORUBA population (allele frequency 0.024)
- Structural context available