N8T (p.Asn8Thr) variant of SLC6A19 (Q695T7)
N8T (p.Asn8Thr) in SLC6A19 (Q695T7) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data, published literature, and structural context.
N8T (p.Asn8Thr) variant details
- p.Asn8Thr
- gnomAD 5-1201668-GC-G
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.395
- CADD 23.90
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available