F65L (p.Phe65Leu) variant of PTH (Parathyroid hormone)
F65L (p.Phe65Leu) in PTH (Parathyroid hormone) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data, published literature, and structural context.
F65L (p.Phe65Leu) variant details
- p.Phe65Leu
- gnomAD 11-13492560-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.531
- REVEL 0.51
- MetaLR 0.46
- MetaSVM -0.50
- CADD 23.40
- PolyPhen-2 0.61
- SIFT 0.12
- Population evidence available
- Structural context available
- Literature evidence available