N77M (p.Asn77Met) variant of SLC6A1 (P30531)
N77M (p.Asn77Met) in SLC6A1 (P30531) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
N77M (p.Asn77Met) variant details
- p.Asn77Met
- gnomAD 3-11017436-GA-G
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.314
- CADD 33.00
- Population evidence available
- Structural context available
- Literature evidence available