P23Q (p.Pro23Gln) variant of TGM1 (P22735)
P23Q (p.Pro23Gln) in TGM1 (P22735) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Autosomal recessive congenital ichthyosis 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data and structural context.
P23Q (p.Pro23Gln) variant details
- p.Pro23Gln
- TOPMed rs1019810397
- gnomAD rs1019810397
- Uncertain significance
- Autosomal recessive congenital ichthyosis 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.52
- REVEL 0.35
- CADD 22.50
- PolyPhen-2 0.99
- SIFT 0.07
- ClinVar: Uncertain significance (Autosomal recessive congenital ichthyosis 1)
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available