P52H (p.Pro52His) variant of GALT (P07902)
P52H (p.Pro52His) in GALT (P07902) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.90 / 1. The record also includes population frequency data, published literature, and structural context.
P52H (p.Pro52His) variant details
- p.Pro52His
- gnomAD 9-34647161-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.897
- REVEL 0.97
- CADD 27.60
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available
- Literature evidence available