N66D (p.Asn66Asp) variant of SLC6A1 (P30531)
N66D (p.Asn66Asp) in SLC6A1 (P30531) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes structural context.
N66D (p.Asn66Asp) variant details
- p.Asn66Asp
- rs1064795392
- ClinGen CA16617795
- ClinVar RCV000483632
- Ensembl rs1064795392
- Likely pathogenic
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.825
- AlphaMissense 1.00
- MetaLR 0.79
- MetaSVM 0.81
- PolyPhen-2 1.00
- SIFT 0.02
- EVE 0.73
- ClinVar: Likely pathogenic (not provided)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available