S2R (p.Ser2Arg) variant of TNF (Tumor necrosis factor)
S2R (p.Ser2Arg) in TNF (Tumor necrosis factor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data, published literature, and structural context.
S2R (p.Ser2Arg) variant details
- p.Ser2Arg
- gnomAD 6-31575747-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.594
- REVEL 0.45
- CADD 25.90
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Literature evidence available