I12F (p.Ile12Phe) variant of PTH (Parathyroid hormone)
I12F (p.Ile12Phe) in PTH (Parathyroid hormone) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data, published literature, and structural context.
I12F (p.Ile12Phe) variant details
- p.Ile12Phe
- gnomAD 11-13492822-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.362
- REVEL 0.29
- MetaLR 0.35
- MetaSVM -0.70
- CADD 14.30
- PolyPhen-2 0.01
- SIFT 0.02
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available
- Literature evidence available