G65A (p.Gly65Ala) variant of NAT2 (Arylamine N-acetyltransferase 2)
G65A (p.Gly65Ala) in NAT2 (Arylamine N-acetyltransferase 2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. 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.
G65A (p.Gly65Ala) variant details
- p.Gly65Ala
- rs1019316375
- ClinGen CA370635363
- ClinVar RCV004472226
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.544
- REVEL 0.52
- CADD 23.70
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available