R4H (p.Arg4His) variant of TYK2 (P29597)
R4H (p.Arg4His) 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 0.20 / 1. The record also includes population frequency data, published literature, and structural context.
R4H (p.Arg4His) variant details
- p.Arg4His
- rs12720343
- ClinGen CA9193906
- ClinVar RCV001231066
- UniProt VAR 020597
- Uncertain significance
- Immunodeficiency 35
- Missense
- Variant Prioritization Score for Impact Estimate 0.204
- REVEL 0.17
- CADD 15.30
- PolyPhen-2 0.00
- SIFT 0.34
- ClinVar: Uncertain significance (Immunodeficiency 35)
- EBI: Variant of uncertain significance (in dbSNP:rs12720343)
- UniProt: Uncertain significance (in dbSNP:rs12720343)
- Most common in the HGDP:SAN population (allele frequency 0.17)
- Structural context available
- Literature evidence available