D68N (p.Asp68Asn) variant of SLC6A3 (Q01959)
D68N (p.Asp68Asn) in SLC6A3 (Q01959) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes population frequency data and structural context.
D68N (p.Asp68Asn) variant details
- p.Asp68Asn
- gnomAD rs1242731728
- Missense
- Variant Prioritization Score for Impact Estimate 0.707
- REVEL 0.67
- MetaLR 0.68
- MetaSVM 0.61
- CADD 26.70
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available