P63R (p.Pro63Arg) variant of CTLA4 (Cytotoxic T-lymphocyte protein 4)
P63R (p.Pro63Arg) in CTLA4 (Cytotoxic T-lymphocyte protein 4) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data and structural context.
P63R (p.Pro63Arg) variant details
- p.Pro63Arg
- TOPMed rs1688713089
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.243
- AlphaMissense 0.10
- MetaLR 0.04
- MetaSVM -0.99
- CADD 9.91
- PolyPhen-2 0.09
- SIFT 0.37
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available