V10A (p.Val10Ala) variant of PTH (Parathyroid hormone)
V10A (p.Val10Ala) 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.
V10A (p.Val10Ala) variant details
- p.Val10Ala
- gnomAD 11-13492827-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.355
- REVEL 0.21
- MetaLR 0.34
- MetaSVM -0.84
- CADD 18.60
- PolyPhen-2 0.00
- SIFT 0.50
- Population evidence available
- Structural context available
- Literature evidence available