R14R (p.Arg14Arg) variant of SLC6A19 (Q695T7)
R14R (p.Arg14Arg) in SLC6A19 (Q695T7) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data, published literature, and structural context.
R14R (p.Arg14Arg) variant details
- p.Arg14Arg
- gnomAD 5-1201690-C-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.416
- CADD 6.83
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available