P27Q (p.Pro27Gln) variant of AIRE (Autoimmune regulator)
P27Q (p.Pro27Gln) in AIRE (Autoimmune regulator) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes population frequency data, published literature, and structural context.
P27Q (p.Pro27Gln) variant details
- p.Pro27Gln
- gnomAD 21-44286086-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.862
- REVEL 0.90
- MetaLR 0.96
- MetaSVM 1.08
- CADD 24.60
- PolyPhen-2 1.00
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available