D78N (p.Asp78Asn) variant of TYK2 (P29597)
D78N (p.Asp78Asn) in TYK2 (P29597) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Immunodeficiency 35. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data and structural context.
D78N (p.Asp78Asn) variant details
- p.Asp78Asn
- rs778171865
- ClinGen CA9193805
- ClinVar RCV001368942
- ExAC rs778171865
- Uncertain significance
- Immunodeficiency 35
- Missense
- Variant Prioritization Score for Impact Estimate 0.209
- REVEL 0.07
- AlphaMissense 0.13
- MetaLR 0.09
- MetaSVM -1.04
- CADD 19.10
- PolyPhen-2 0.36
- ClinVar: Uncertain significance (Immunodeficiency 35)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 7.3e-05)
- Structural context available