A39A (p.Ala39Ala) variant of SLC6A19 (Q695T7)
A39A (p.Ala39Ala) in SLC6A19 (Q695T7) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.08 / 1. The record also includes population frequency data, published literature, and structural context.
A39A (p.Ala39Ala) variant details
- p.Ala39Ala
- rs149830504
- gnomAD 5-1201767-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.0819
- CADD 0.21
- Most common in the HGDP:BIAKA population (allele frequency 0.045)
- Structural context available
- Literature evidence available