P16Q (p.Pro16Gln) variant of SLC6A19 (Q695T7)
P16Q (p.Pro16Gln) in SLC6A19 (Q695T7) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data and structural context.
P16Q (p.Pro16Gln) variant details
- p.Pro16Gln
- ESP rs201925289
- ExAC rs201925289
- TOPMed rs201925289
- gnomAD rs201925289
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.175
- REVEL 0.07
- ESM-1b 0.00
- AlphaMissense 0.21
- CADD 16.50
- PolyPhen-2 0.01
- SIFT 0.05
- EBI: Likely benign
- UniProt: Likely benign
- Population evidence available
- Structural context available