Q40Q (p.Gln40Gln) variant of SLC6A19 (Q695T7)
Q40Q (p.Gln40Gln) in SLC6A19 (Q695T7) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data, published literature, and structural context.
Q40Q (p.Gln40Gln) variant details
- p.Gln40Gln
- rs1371591515
- gnomAD 5-1201770-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.371
- CADD 7.58
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available
- Literature evidence available