P8R (p.Pro8Arg) variant of GALT (P07902)
P8R (p.Pro8Arg) in GALT (P07902) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
P8R (p.Pro8Arg) variant details
- p.Pro8Arg
- gnomAD 9-34646727-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.335
- REVEL 0.37
- CADD 15.40
- PolyPhen-2 0.03
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available