G65V (p.Gly65Val) variant of NAT2 (Arylamine N-acetyltransferase 2)
G65V (p.Gly65Val) 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 0.55 / 1. The record also includes population frequency data and structural context.
G65V (p.Gly65Val) variant details
- p.Gly65Val
- rs1019316375
- ClinGen CA173519898
- ClinVar RCV004109224
- TOPMed rs1019316375
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.554
- REVEL 0.54
- CADD 24.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available