L24I (p.Leu24Ile) variant of NAT2 (Arylamine N-acetyltransferase 2)
L24I (p.Leu24Ile) in NAT2 (Arylamine N-acetyltransferase 2) is a missense change. Clinical records from EBI and UniProt describe it as benign in the context of in allele NAT2*5L. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data, published literature, and structural context.
L24I (p.Leu24Ile) variant details
- p.Leu24Ile
- rs45477599
- UniProt VAR 018853
- 1000Genomes rs45477599
- ESP rs45477599
- Benign
- in allele NAT2*5L
- Missense
- Variant Prioritization Score for Impact Estimate 0.521
- REVEL 0.33
- CADD 19.50
- PolyPhen-2 1.00
- SIFT 0.01
- EBI: Benign (in allele NAT2*5L)
- UniProt: Benign (in allele NAT2*5L)
- Most common in the 1KG:LWK population (allele frequency 0.017)
- Structural context available
- Cited in: Deciphering the ancient and complex evolutionary history of human arylamine N-acetyltransferase genes. (PMID 16416399)