D34N (p.Asp34Asn) variant of BACH2 (Q9BYV9)
D34N (p.Asp34Asn) in BACH2 (Q9BYV9) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Autosomal recessive congenital ichthyosis; Immunodeficiency 60; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data.
D34N (p.Asp34Asn) variant details
- p.Asp34Asn
- rs779790057
- ClinGen CA3928231
- ClinVar RCV002003576
- ClinVar RCV005626575
- Uncertain significance
- Autosomal recessive congenital ichthyosis; Immunodeficiency 60; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.463
- REVEL 0.22
- CADD 26.80
- PolyPhen-2 0.91
- SIFT 0.02
- ClinVar: Uncertain significance (Autosomal recessive congenital ichthyosis; Immunodeficiency 60;)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 3.5e-05)