A6P (p.Ala6Pro) variant of AIRE (Autoimmune regulator)
A6P (p.Ala6Pro) in AIRE (Autoimmune regulator) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data and structural context.
A6P (p.Ala6Pro) variant details
- p.Ala6Pro
- gnomAD rs1358819740
- Missense
- Variant Prioritization Score for Impact Estimate 0.353
- REVEL 0.38
- MetaLR 0.57
- MetaSVM -0.21
- CADD 13.40
- SIFT 0.24
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available