R14P (p.Arg14Pro) variant of SLC6A19 (Q695T7)
R14P (p.Arg14Pro) in SLC6A19 (Q695T7) is a missense change. Clinical records from EBI and UniProt describe it as benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data and structural context.
R14P (p.Arg14Pro) variant details
- p.Arg14Pro
- 1000Genomes rs147458082
- ESP rs147458082
- ExAC rs147458082
- TOPMed rs147458082
- Benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.531
- REVEL 0.48
- ESM-1b 0.00
- AlphaMissense 0.88
- CADD 25.30
- PolyPhen-2 0.93
- SIFT 0.00
- EBI: Benign
- UniProt: Benign
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available