P27S (p.Pro27Ser) variant of AIRE (Autoimmune regulator)
P27S (p.Pro27Ser) in AIRE (Autoimmune regulator) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes population frequency data, published literature, and structural context.
P27S (p.Pro27Ser) variant details
- p.Pro27Ser
- gnomAD 21-44286085-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.868
- REVEL 0.91
- MetaLR 0.95
- MetaSVM 1.07
- CADD 24.30
- PolyPhen-2 1.00
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available