L4V (p.Leu4Val) variant of SLC6A19 (Q695T7)
L4V (p.Leu4Val) 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.
L4V (p.Leu4Val) variant details
- p.Leu4Val
- gnomAD 5-1201660-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.418
- REVEL 0.30
- ESM-1b 0.00
- AlphaMissense 0.13
- CADD 23.50
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 3.6e-06)
- Structural context available
- Literature evidence available