S2* (p.Ser2Ter) variant of GALT (P07902)
S2* (p.Ser2Ter) in GALT (P07902) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data, published literature, and structural context.
S2* (p.Ser2Ter) variant details
- p.Ser2Ter
- gnomAD 9-34646709-C-A
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.449
- CADD 35.00
- Most common in the Finnish in Finland (FIN) population (allele frequency 1.9e-05)
- Structural context available
- Literature evidence available