N82K (p.Asn82Lys) variant of SLC6A3 (Q01959)
N82K (p.Asn82Lys) in SLC6A3 (Q01959) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data and structural context.
N82K (p.Asn82Lys) variant details
- p.Asn82Lys
- 1000Genomes rs531921076
- TOPMed rs531921076
- Missense
- Variant Prioritization Score for Impact Estimate 0.558
- REVEL 0.71
- MetaLR 0.80
- MetaSVM 0.59
- CADD 22.50
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available