L37H (p.Leu37His) variant of GALT (P07902)
L37H (p.Leu37His) in GALT (P07902) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data, published literature, and structural context.
L37H (p.Leu37His) variant details
- p.Leu37His
- rs528320335
- gnomAD 9-34647216-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.624
- CADD 12.50
- Most common in the Non-Finnish European population (allele frequency 4.5e-06)
- Structural context available
- Literature evidence available