D34N (p.Asp34Asn) variant of AIRE (Autoimmune regulator)
D34N (p.Asp34Asn) in AIRE (Autoimmune regulator) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes population frequency data and structural context.
D34N (p.Asp34Asn) variant details
- p.Asp34Asn
- gnomAD rs1214972960
- Missense
- Variant Prioritization Score for Impact Estimate 0.703
- REVEL 0.63
- MetaLR 0.93
- MetaSVM 1.02
- CADD 29.10
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9.3e-07)
- Structural context available