Q13L (p.Gln13Leu) variant of GALT (P07902)
Q13L (p.Gln13Leu) in GALT (P07902) 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.
Q13L (p.Gln13Leu) variant details
- p.Gln13Leu
- gnomAD 9-34646742-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.344
- REVEL 0.47
- CADD 15.80
- PolyPhen-2 0.00
- SIFT 0.13
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available