N77D (p.Asn77Asp) variant of SLC6A1 (P30531)
N77D (p.Asn77Asp) in SLC6A1 (P30531) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes population frequency data and structural context.
N77D (p.Asn77Asp) variant details
- p.Asn77Asp
- ExAC rs772122812
- Missense
- Variant Prioritization Score for Impact Estimate 0.763
- REVEL 0.85
- CADD 28.00
- PolyPhen-2 1.00
- SIFT 0.01
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available