N37K (p.Asn37Lys) variant of SLC6A19 (Q695T7)
N37K (p.Asn37Lys) in SLC6A19 (Q695T7) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data and structural context.
N37K (p.Asn37Lys) variant details
- p.Asn37Lys
- TOPMed rs1745706328
- gnomAD rs1745706328
- Missense
- Variant Prioritization Score for Impact Estimate 0.552
- REVEL 0.57
- ESM-1b 1.00
- AlphaMissense 0.68
- CADD 24.70
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available