S48S (p.Ser48Ser) variant of PTH (Parathyroid hormone)
S48S (p.Ser48Ser) in PTH (Parathyroid hormone) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.09 / 1. The record also includes population frequency data, published literature, and structural context.
S48S (p.Ser48Ser) variant details
- p.Ser48Ser
- rs376145884
- gnomAD 11-13492609-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.0861
- CADD 0.77
- Most common in the HGDP:YAKUT population (allele frequency 0.04)
- Structural context available
- Literature evidence available