V42M (p.Val42Met) variant of GALT (P07902)
V42M (p.Val42Met) in GALT (P07902) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.88 / 1. The record also includes population frequency data, published literature, and structural context.
V42M (p.Val42Met) variant details
- p.Val42Met
- gnomAD 9-34647130-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.882
- REVEL 0.94
- CADD 29.70
- PolyPhen-2 0.98
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available