T23P (p.Thr23Pro) variant of NAT2 (Arylamine N-acetyltransferase 2)
T23P (p.Thr23Pro) in NAT2 (Arylamine N-acetyltransferase 2) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data and structural context.
T23P (p.Thr23Pro) variant details
- p.Thr23Pro
- TOPMed rs1464413878
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.388
- REVEL 0.29
- CADD 24.30
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available