G11V (p.Gly11Val) variant of NAT2 (Arylamine N-acetyltransferase 2)
G11V (p.Gly11Val) in NAT2 (Arylamine N-acetyltransferase 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data and structural context.
G11V (p.Gly11Val) variant details
- p.Gly11Val
- ExAC rs747536177
- gnomAD rs747536177
- Missense
- Variant Prioritization Score for Impact Estimate 0.451
- REVEL 0.25
- CADD 23.80
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the Latino/Admixed American population (allele frequency 2.3e-05)
- Structural context available