Q40P (p.Gln40Pro) variant of SLC6A19 (Q695T7)
Q40P (p.Gln40Pro) in SLC6A19 (Q695T7) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes population frequency data and structural context.
Q40P (p.Gln40Pro) variant details
- p.Gln40Pro
- gnomAD rs1369938743
- Missense
- Variant Prioritization Score for Impact Estimate 0.789
- REVEL 0.89
- ESM-1b 1.00
- AlphaMissense 0.74
- CADD 25.80
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available