P10A (p.Pro10Ala) variant of IRF7 (Interferon regulatory factor 7)
P10A (p.Pro10Ala) in IRF7 (Interferon regulatory factor 7) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Immunodeficiency 39. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data and structural context.
P10A (p.Pro10Ala) variant details
- p.Pro10Ala
- TOPMed rs906854821
- gnomAD rs906854821
- Uncertain significance
- Immunodeficiency 39
- Missense
- Variant Prioritization Score for Impact Estimate 0.503
- AlphaMissense 0.09
- MetaLR 0.73
- MetaSVM 0.50
- CADD 14.40
- PolyPhen-2 0.45
- SIFT 0.05
- ClinVar: Uncertain significance (Immunodeficiency 39)
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 4.8e-05)
- Structural context available