P44S (p.Pro44Ser) variant of IFNGR1 (Interferon gamma receptor 1)
P44S (p.Pro44Ser) in IFNGR1 (Interferon gamma receptor 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data and structural context.
P44S (p.Pro44Ser) variant details
- p.Pro44Ser
- ExAC rs749548839
- gnomAD rs749548839
- Missense
- Variant Prioritization Score for Impact Estimate 0.252
- REVEL 0.31
- CADD 14.60
- PolyPhen-2 0.46
- SIFT 0.07
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available