R12S (p.Arg12Ser) variant of AIRE (Autoimmune regulator)
R12S (p.Arg12Ser) in AIRE (Autoimmune regulator) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data, published literature, and structural context.
R12S (p.Arg12Ser) variant details
- p.Arg12Ser
- gnomAD 21-44286042-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.602
- REVEL 0.72
- MetaLR 0.80
- MetaSVM 0.61
- CADD 24.00
- PolyPhen-2 0.85
- SIFT 0.00
- Most common in the Finnish in Finland (FIN) population (allele frequency 2.6e-05)
- Structural context available
- Literature evidence available