A14V (p.Ala14Val) variant of GALT (P07902)
A14V (p.Ala14Val) in GALT (P07902) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data and structural context.
A14V (p.Ala14Val) variant details
- p.Ala14Val
- TOPMed rs1821111452
- Missense
- Variant Prioritization Score for Impact Estimate 0.459
- REVEL 0.44
- AlphaMissense 0.11
- MetaLR 0.94
- MetaSVM 1.04
- CADD 20.10
- PolyPhen-2 0.00
- Most common in the Non-Finnish European population (allele frequency 5.4e-06)
- Structural context available