K76N (p.Lys76Asn) variant of SLC6A1 (P30531)
K76N (p.Lys76Asn) in SLC6A1 (P30531) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data and structural context.
K76N (p.Lys76Asn) variant details
- p.Lys76Asn
- ExAC rs779183994
- TOPMed rs779183994
- gnomAD rs779183994
- Missense
- Variant Prioritization Score for Impact Estimate 0.458
- REVEL 0.60
- CADD 23.80
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available