Q40K (p.Gln40Lys) variant of SLC6A19 (Q695T7)
Q40K (p.Gln40Lys) in SLC6A19 (Q695T7) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes population frequency data and structural context.
Q40K (p.Gln40Lys) variant details
- p.Gln40Lys
- TOPMed rs1294354065
- gnomAD rs1294354065
- Missense
- Variant Prioritization Score for Impact Estimate 0.744
- REVEL 0.72
- ESM-1b 1.00
- AlphaMissense 0.51
- CADD 24.20
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available