V52I (p.Val52Ile) variant of PTH (Parathyroid hormone)
V52I (p.Val52Ile) in PTH (Parathyroid hormone) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data, published literature, and structural context.
V52I (p.Val52Ile) variant details
- p.Val52Ile
- gnomAD 11-13492599-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.153
- REVEL 0.12
- MetaLR 0.34
- MetaSVM -0.82
- CADD 5.35
- PolyPhen-2 0.14
- SIFT 0.63
- Most common in the HGDP:YAKUT population (allele frequency 0.04)
- Structural context available
- Literature evidence available