V22L (p.Val22Leu) variant of AIRE (Autoimmune regulator)
V22L (p.Val22Leu) in AIRE (Autoimmune regulator) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data, published literature, and structural context.
V22L (p.Val22Leu) variant details
- p.Val22Leu
- gnomAD 21-44286070-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.508
- REVEL 0.44
- MetaLR 0.76
- MetaSVM 0.46
- CADD 24.10
- PolyPhen-2 0.51
- SIFT 0.00
- Most common in the South Asian population (allele frequency 1.3e-05)
- Structural context available
- Literature evidence available