A67T (p.Ala67Thr) variant of PTH (Parathyroid hormone)
A67T (p.Ala67Thr) 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 0.43 / 1. The record also includes population frequency data and structural context.
A67T (p.Ala67Thr) variant details
- p.Ala67Thr
- gnomAD rs1383913477
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.43
- REVEL 0.28
- MetaLR 0.44
- MetaSVM -0.57
- CADD 16.00
- PolyPhen-2 0.47
- SIFT 0.25
- ClinVar: Uncertain significance (not provided)
- UniProt: Uncertain significance
- Most common in the 1KG:MSL population (allele frequency 0.013)
- Structural context available