V20E (p.Val20Glu) variant of AIRE (Autoimmune regulator)
V20E (p.Val20Glu) in AIRE (Autoimmune regulator) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes structural context.
V20E (p.Val20Glu) variant details
- p.Val20Glu
- rs1291820513
- TOPMed rs1291820513
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.655
- AlphaMissense 0.59
- MetaLR 0.79
- MetaSVM 0.61
- PolyPhen-2 0.99
- SIFT 0.03
- EVE 0.17
- UniProt: Variant assessed as somatic; moderate impact.
- Structural context available