L21V (p.Leu21Val) variant of NAT1 (Arylamine N-acetyltransferase 1)
L21V (p.Leu21Val) in NAT1 (Arylamine N-acetyltransferase 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data and structural context.
L21V (p.Leu21Val) variant details
- p.Leu21Val
- ExAC rs767455795
- gnomAD rs767455795
- Missense
- Variant Prioritization Score for Impact Estimate 0.241
- REVEL 0.19
- CADD 20.30
- PolyPhen-2 0.94
- SIFT 0.02
- Most common in the Non-Finnish European population (allele frequency 4.4e-05)
- Structural context available