T40S (p.Thr40Ser) variant of IFNAR2 (Interferon alpha/beta receptor 2)
T40S (p.Thr40Ser) in IFNAR2 (Interferon alpha/beta receptor 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data, published literature, and structural context.
T40S (p.Thr40Ser) variant details
- p.Thr40Ser
- gnomAD 21-33244972-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.128
- REVEL 0.18
- CADD 0.01
- PolyPhen-2 0.01
- SIFT 0.37
- Most common in the Non-Finnish European population (allele frequency 8.8e-05)
- Structural context available
- Literature evidence available