R8S (p.Arg8Ser) variant of AIRE (Autoimmune regulator)
R8S (p.Arg8Ser) in AIRE (Autoimmune regulator) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes population frequency data, published literature, and structural context.
R8S (p.Arg8Ser) variant details
- p.Arg8Ser
- gnomAD 21-44286028-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.713
- REVEL 0.70
- MetaLR 0.87
- MetaSVM 0.89
- CADD 22.70
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9.3e-07)
- Structural context available
- Literature evidence available