P152L (p.Pro152Leu) variant of BACH2 (Q9BYV9)
P152L (p.Pro152Leu) in BACH2 (Q9BYV9) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Immunodeficiency 60; not specified; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data.
P152L (p.Pro152Leu) variant details
- p.Pro152Leu
- rs200976634
- ClinGen CA3928166
- ClinVar RCV002208761
- ClinVar RCV003089104
- Uncertain significance
- Immunodeficiency 60; not specified; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.314
- REVEL 0.04
- CADD 17.50
- PolyPhen-2 0.00
- SIFT 0.31
- ClinVar: Uncertain significance (Immunodeficiency 60; not specified; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 0.00029)