V5A (p.Val5Ala) variant of SLC6A19 (Q695T7)
V5A (p.Val5Ala) in SLC6A19 (Q695T7) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.12 / 1. The record also includes population frequency data, published literature, and structural context.
V5A (p.Val5Ala) variant details
- p.Val5Ala
- gnomAD 5-1201664-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.123
- REVEL 0.07
- ESM-1b 0.00
- AlphaMissense 0.09
- CADD 14.10
- PolyPhen-2 0.01
- SIFT 0.50
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available