S2S (p.Ser2Ser) variant of GALT (P07902)
S2S (p.Ser2Ser) in GALT (P07902) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data, published literature, and structural context.
S2S (p.Ser2Ser) variant details
- p.Ser2Ser
- rs1410764100
- gnomAD 9-34646710-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.237
- CADD 11.90
- Most common in the HGDP:XIBO population (allele frequency 0.056)
- Structural context available
- Literature evidence available