D119H (p.Asp119His) variant of TNFRSF9 (Q07011)
D119H (p.Asp119His) 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 0.29 / 1. The record also includes population frequency data and structural context.
D119H (p.Asp119His) variant details
- p.Asp119His
- rs763203873
- ClinGen CA569247
- ClinVar RCV003698301
- ExAC rs763203873
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.292
- REVEL 0.10
- CADD 26.10
- PolyPhen-2 0.75
- SIFT 0.01
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 4.5e-06)
- Structural context available