D24Y (p.Asp24Tyr) variant of PTH (Parathyroid hormone)
D24Y (p.Asp24Tyr) in PTH (Parathyroid hormone) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data and structural context.
D24Y (p.Asp24Tyr) variant details
- p.Asp24Tyr
- ExAC rs756406117
- gnomAD rs756406117
- Missense
- Variant Prioritization Score for Impact Estimate 0.443
- REVEL 0.40
- MetaLR 0.54
- MetaSVM -0.06
- CADD 21.80
- PolyPhen-2 0.03
- SIFT 0.01
- Most common in the East Asian population (allele frequency 0.00015)
- Structural context available