V20A (p.Val20Ala) variant of AIRE (Autoimmune regulator)
V20A (p.Val20Ala) in AIRE (Autoimmune regulator) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data, published literature, and structural context.
V20A (p.Val20Ala) variant details
- p.Val20Ala
- gnomAD 21-44286065-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.462
- REVEL 0.39
- MetaLR 0.69
- MetaSVM 0.22
- CADD 23.60
- PolyPhen-2 0.48
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available