A6T (p.Ala6Thr) variant of AIRE (Autoimmune regulator)
A6T (p.Ala6Thr) in AIRE (Autoimmune regulator) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data, published literature, and structural context.
A6T (p.Ala6Thr) variant details
- p.Ala6Thr
- gnomAD 21-44286022-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.236
- REVEL 0.15
- MetaLR 0.53
- MetaSVM -0.35
- CADD 12.40
- PolyPhen-2 0.07
- SIFT 0.35
- Most common in the Non-Finnish European population (allele frequency 9.3e-07)
- Structural context available
- Literature evidence available