D92N (p.Asp92Asn) variant of JAK3 (Tyrosine-protein kinase JAK3)
D92N (p.Asp92Asn) in JAK3 (Tyrosine-protein kinase JAK3) 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 0.49 / 1. The record also includes structural context.
D92N (p.Asp92Asn) variant details
- p.Asp92Asn
- rs1323968278
- TOPMed rs1323968278
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.493
- AlphaMissense 0.22
- MetaLR 0.50
- MetaSVM 0.17
- PolyPhen-2 1.00
- SIFT 0.03
- EVE 0.21
- UniProt: Variant assessed as somatic; moderate impact.
- Structural context available