A6S (p.Ala6Ser) variant of AIRE (Autoimmune regulator)
A6S (p.Ala6Ser) in AIRE (Autoimmune regulator) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data, published literature, and structural context.
A6S (p.Ala6Ser) variant details
- p.Ala6Ser
- gnomAD 21-44286022-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.228
- REVEL 0.17
- MetaLR 0.46
- MetaSVM -0.43
- CADD 8.39
- PolyPhen-2 0.01
- SIFT 0.60
- Most common in the Non-Finnish European population (allele frequency 9.3e-07)
- Structural context available
- Literature evidence available