Q9L (p.Gln9Leu) variant of GALT (P07902)
Q9L (p.Gln9Leu) in GALT (P07902) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data and structural context.
Q9L (p.Gln9Leu) variant details
- p.Gln9Leu
- ExAC rs764584693
- gnomAD rs764584693
- Missense
- Variant Prioritization Score for Impact Estimate 0.437
- REVEL 0.41
- AlphaMissense 0.09
- MetaLR 0.91
- MetaSVM 0.86
- CADD 17.70
- PolyPhen-2 0.04
- Most common in the Latino/Admixed American population (allele frequency 4.5e-05)
- Structural context available