A39S (p.Ala39Ser) variant of SLC6A19 (Q695T7)
A39S (p.Ala39Ser) in SLC6A19 (Q695T7) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data, published literature, and structural context.
A39S (p.Ala39Ser) variant details
- p.Ala39Ser
- gnomAD 5-1201765-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.467
- REVEL 0.45
- ESM-1b 1.00
- AlphaMissense 0.12
- CADD 19.60
- PolyPhen-2 0.60
- SIFT 0.41
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available
- Literature evidence available