P16R (p.Pro16Arg) variant of SLC6A19 (Q695T7)
P16R (p.Pro16Arg) 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 0.26 / 1. The record also includes population frequency data and structural context.
P16R (p.Pro16Arg) variant details
- p.Pro16Arg
- ESP rs201925289
- ExAC rs201925289
- TOPMed rs201925289
- gnomAD rs201925289
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.261
- REVEL 0.23
- ESM-1b 0.00
- AlphaMissense 0.17
- CADD 17.70
- PolyPhen-2 0.43
- SIFT 0.05
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available