S34N (p.Ser34Asn) variant of PTH (Parathyroid hormone)
S34N (p.Ser34Asn) in PTH (Parathyroid hormone) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data.
S34N (p.Ser34Asn) variant details
- p.Ser34Asn
- TOPMed rs1230332004
- gnomAD rs1230332004
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.587
- REVEL 0.50
- MetaLR 0.69
- MetaSVM 0.40
- CADD 25.10
- PolyPhen-2 0.98
- SIFT 0.00
- ClinVar: Uncertain significance (not provided)
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)