N54N (p.Asn54Asn) variant of SLC6A19 (Q695T7)
N54N (p.Asn54Asn) in SLC6A19 (Q695T7) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data, published literature, and structural context.
N54N (p.Asn54Asn) variant details
- p.Asn54Asn
- rs139760936
- gnomAD 5-1201812-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.193
- AlphaMissense 0.12
- MetaLR 0.19
- MetaSVM -0.94
- CADD 6.39
- PolyPhen-2 0.01
- SIFT 0.15
- Most common in the 1KG:CDX population (allele frequency 0.0057)
- Structural context available
- Literature evidence available