P53R (p.Pro53Arg) variant of DOCK8 (Q8NF50)
P53R (p.Pro53Arg) in DOCK8 (Q8NF50) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Combined immunodeficiency due to DOCK8 deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data and structural context.
P53R (p.Pro53Arg) variant details
- p.Pro53Arg
- rs777781052
- ClinGen CA372755698
- ClinVar RCV006468476
- ExAC rs777781052
- Uncertain significance
- Combined immunodeficiency due to DOCK8 deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.305
- AlphaMissense 0.21
- MetaLR 0.03
- MetaSVM -1.05
- PolyPhen-2 0.00
- EVE 0.23
- MutPred 0.47
- ClinVar: Uncertain significance (Combined immunodeficiency due to DOCK8 deficiency)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available