A13V (p.Ala13Val) variant of SLC6A19 (Q695T7)
A13V (p.Ala13Val) in SLC6A19 (Q695T7) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data and structural context.
A13V (p.Ala13Val) variant details
- p.Ala13Val
- TOPMed rs1485693997
- gnomAD rs1485693997
- Missense
- Variant Prioritization Score for Impact Estimate 0.248
- REVEL 0.14
- ESM-1b 0.00
- AlphaMissense 0.09
- CADD 4.58
- PolyPhen-2 0.02
- SIFT 0.27
- Most common in the East Asian population (allele frequency 7.6e-05)
- Structural context available