D36V (p.Asp36Val) variant of SLC6A19 (Q695T7)
D36V (p.Asp36Val) in SLC6A19 (Q695T7) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data, published literature, and structural context.
D36V (p.Asp36Val) variant details
- p.Asp36Val
- gnomAD 5-1201757-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.682
- REVEL 0.68
- ESM-1b 1.00
- AlphaMissense 0.43
- CADD 27.30
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Literature evidence available