A6V (p.Ala6Val) variant of AIRE (Autoimmune regulator)
A6V (p.Ala6Val) in AIRE (Autoimmune regulator) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data and structural context.
A6V (p.Ala6Val) variant details
- p.Ala6Val
- gnomAD rs1304366953
- Missense
- Variant Prioritization Score for Impact Estimate 0.155
- REVEL 0.14
- MetaLR 0.48
- MetaSVM -0.49
- CADD 0.29
- PolyPhen-2 0.01
- SIFT 0.17
- Most common in the Non-Finnish European population (allele frequency 1.9e-06)
- Structural context available