D12V (p.Asp12Val) variant of SLC6A19 (Q695T7)
D12V (p.Asp12Val) in SLC6A19 (Q695T7) is a missense 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.
D12V (p.Asp12Val) variant details
- p.Asp12Val
- gnomAD 5-1201685-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.419
- REVEL 0.38
- ESM-1b 0.00
- AlphaMissense 0.18
- CADD 24.40
- PolyPhen-2 0.78
- SIFT 0.00
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available