A17V (p.Ala17Val) variant of GALT (P07902)
A17V (p.Ala17Val) in GALT (P07902) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data and structural context.
A17V (p.Ala17Val) variant details
- p.Ala17Val
- ExAC rs749374402
- gnomAD rs749374402
- Missense
- Variant Prioritization Score for Impact Estimate 0.334
- REVEL 0.36
- CADD 15.30
- PolyPhen-2 0.00
- SIFT 0.25
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available