H14R (p.His14Arg) variant of AIRE (Autoimmune regulator)
H14R (p.His14Arg) in AIRE (Autoimmune regulator) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data, published literature, and structural context.
H14R (p.His14Arg) variant details
- p.His14Arg
- gnomAD 21-44286047-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.477
- REVEL 0.42
- MetaLR 0.69
- MetaSVM 0.28
- CADD 22.80
- PolyPhen-2 0.38
- SIFT 0.01
- Most common in the South Asian population (allele frequency 2.5e-05)
- Structural context available
- Literature evidence available