R14Q (p.Arg14Gln) variant of SLC6A19 (Q695T7)
R14Q (p.Arg14Gln) in SLC6A19 (Q695T7) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign/likely benign in the context of not specified; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data and structural context.
R14Q (p.Arg14Gln) variant details
- p.Arg14Gln
- rs147458082
- ClinGen CA3182542
- ClinVar RCV000514646
- ClinVar RCV006447283
- Benign/Likely benign
- not specified; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.452
- REVEL 0.36
- ESM-1b 0.00
- AlphaMissense 0.26
- CADD 23.50
- PolyPhen-2 0.79
- SIFT 0.10
- ClinVar: Benign/Likely benign (not specified; not provided)
- EBI: Benign
- UniProt: Benign
- Most common in the HGDP:DAI population (allele frequency 0.17)
- Structural context available