V2G (p.Val2Gly) variant of SLC6A19 (Q695T7)
V2G (p.Val2Gly) in SLC6A19 (Q695T7) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
V2G (p.Val2Gly) variant details
- p.Val2Gly
- gnomAD 5-1201655-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.342
- REVEL 0.36
- ESM-1b 0.00
- AlphaMissense 0.09
- CADD 23.50
- PolyPhen-2 0.16
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available
- Literature evidence available