R9I (p.Arg9Ile) variant of NAT1 (Arylamine N-acetyltransferase 1)
R9I (p.Arg9Ile) 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 0.54 / 1. The record also includes population frequency data and structural context.
R9I (p.Arg9Ile) variant details
- p.Arg9Ile
- rs772568722
- NCI-TCGA Cosmic COSV1044
- NCI-TCGA Cosmic COSV5698
- cosmic curated COSV56984
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.538
- REVEL 0.38
- CADD 24.80
- PolyPhen-2 0.99
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the African/African-American population (allele frequency 6e-05)
- Structural context available