M48I (p.Met48Ile) variant of NAT1 (Arylamine N-acetyltransferase 1)
M48I (p.Met48Ile) in NAT1 (Arylamine N-acetyltransferase 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data and structural context.
M48I (p.Met48Ile) variant details
- p.Met48Ile
- cosmic curated COSV56984
- ExAC rs769023535
- gnomAD rs769023535
- Missense
- Variant Prioritization Score for Impact Estimate 0.277
- REVEL 0.14
- CADD 3.22
- PolyPhen-2 0.01
- SIFT 1.00
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available