S4R (p.Ser4Arg) variant of GALT (P07902)
S4R (p.Ser4Arg) in GALT (P07902) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data, published literature, and structural context.
S4R (p.Ser4Arg) variant details
- p.Ser4Arg
- gnomAD 9-34646716-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.253
- REVEL 0.32
- CADD 14.80
- PolyPhen-2 0.00
- SIFT 0.06
- Population evidence available
- Structural context available
- Literature evidence available