S48L (p.Ser48Leu) variant of PTH (Parathyroid hormone)
S48L (p.Ser48Leu) in PTH (Parathyroid hormone) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data and structural context.
S48L (p.Ser48Leu) variant details
- p.Ser48Leu
- rs762100011
- NCI-TCGA Cosmic COSV5637
- cosmic curated COSV56378
- ExAC rs762100011
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.232
- REVEL 0.12
- MetaLR 0.37
- MetaSVM -0.78
- CADD 15.80
- PolyPhen-2 0.01
- SIFT 0.06
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 8.8e-05)
- Structural context available