V10I (p.Val10Ile) variant of PTH (Parathyroid hormone)
V10I (p.Val10Ile) in PTH (Parathyroid hormone) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data, published literature, and structural context.
V10I (p.Val10Ile) variant details
- p.Val10Ile
- gnomAD 11-13492828-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.206
- REVEL 0.17
- MetaLR 0.35
- MetaSVM -0.75
- CADD 9.76
- PolyPhen-2 0.06
- SIFT 0.16
- Population evidence available
- Structural context available
- Literature evidence available