L68F (p.Leu68Phe) variant of PTH (Parathyroid hormone)
L68F (p.Leu68Phe) in PTH (Parathyroid hormone) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data and structural context.
L68F (p.Leu68Phe) variant details
- p.Leu68Phe
- ExAC rs369252497
- gnomAD rs369252497
- Missense
- Variant Prioritization Score for Impact Estimate 0.368
- REVEL 0.20
- MetaLR 0.44
- MetaSVM -0.47
- CADD 16.00
- PolyPhen-2 0.03
- SIFT 0.21
- Most common in the HGDP:BURUSHO population (allele frequency 0.042)
- Structural context available