R4P (p.Arg4Pro) variant of TYK2 (P29597)
R4P (p.Arg4Pro) 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.
R4P (p.Arg4Pro) variant details
- p.Arg4Pro
- rs12720343
- ClinGen CA9193905
- ClinVar RCV002024935
- 1000Genomes rs12720343
- Uncertain significance
- Immunodeficiency 35
- Missense
- Variant Prioritization Score for Impact Estimate 0.209
- REVEL 0.17
- CADD 17.00
- PolyPhen-2 0.00
- SIFT 0.11
- ClinVar: Uncertain significance (Immunodeficiency 35)
- EBI: Variant of uncertain significance (in dbSNP:rs12720343)
- UniProt: Uncertain significance (in dbSNP:rs12720343)
- Most common in the Latino/Admixed American population (allele frequency 0.00011)
- Structural context available