Y12C (p.Tyr12Cys) variant of NAT1 (Arylamine N-acetyltransferase 1)
Y12C (p.Tyr12Cys) in NAT1 (Arylamine N-acetyltransferase 1) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data and structural context.
Y12C (p.Tyr12Cys) variant details
- p.Tyr12Cys
- NCI-TCGA Cosmic COSV1003
- cosmic curated COSV10030
- Ensembl rs1805360504
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.301
- REVEL 0.20
- CADD 22.30
- PolyPhen-2 0.98
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the South Asian population (allele frequency 2.3e-05)
- Structural context available