N54I (p.Asn54Ile) variant of SLC6A19 (Q695T7)
N54I (p.Asn54Ile) in SLC6A19 (Q695T7) 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.
N54I (p.Asn54Ile) variant details
- p.Asn54Ile
- TOPMed rs1434820971
- gnomAD rs1434820971
- Missense
- Variant Prioritization Score for Impact Estimate 0.758
- REVEL 0.83
- ESM-1b 1.00
- AlphaMissense 0.60
- CADD 27.00
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available