G116A (p.Gly116Ala) variant of TNFRSF9 (Q07011)
G116A (p.Gly116Ala) 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 0.35 / 1. The record also includes population frequency data and structural context.
G116A (p.Gly116Ala) variant details
- p.Gly116Ala
- rs752004630
- ClinGen CA338159494
- ClinVar RCV002796806
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.351
- REVEL 0.10
- CADD 29.00
- PolyPhen-2 0.38
- SIFT 0.04
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available