P7L (p.Pro7Leu) variant of SLC6A19 (Q695T7)
P7L (p.Pro7Leu) in SLC6A19 (Q695T7) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data and structural context.
P7L (p.Pro7Leu) variant details
- p.Pro7Leu
- TOPMed rs1357427165
- gnomAD rs1357427165
- Missense
- Variant Prioritization Score for Impact Estimate 0.558
- REVEL 0.56
- ESM-1b 0.00
- AlphaMissense 0.27
- CADD 24.10
- PolyPhen-2 0.93
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 7.2e-05)
- Structural context available