K115N (p.Lys115Asn) variant of TNFRSF9 (Q07011)
K115N (p.Lys115Asn) in TNFRSF9 (Q07011) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data, published literature, and structural context.
K115N (p.Lys115Asn) variant details
- p.Lys115Asn
- rs9657965
- ClinGen CA569279
- ClinVar RCV001468948
- ClinVar RCV004540392
- Likely benign
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.179
- REVEL 0.27
- CADD 0.06
- PolyPhen-2 0.00
- SIFT 0.24
- ClinVar: Likely benign (not provided)
- EBI: Likely benign (in dbSNP:rs9657965)
- UniProt: Likely benign (in dbSNP:rs9657965)
- Most common in the 1KG:ESN population (allele frequency 0.015)
- Structural context available
- Literature evidence available