F65V (p.Phe65Val) variant of PTH (Parathyroid hormone)
F65V (p.Phe65Val) in PTH (Parathyroid hormone) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data, published literature, and structural context.
F65V (p.Phe65Val) variant details
- p.Phe65Val
- gnomAD 11-13492560-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.539
- REVEL 0.53
- MetaLR 0.49
- MetaSVM -0.44
- CADD 23.20
- PolyPhen-2 0.70
- SIFT 0.04
- Population evidence available
- Structural context available
- Literature evidence available