D24G (p.Asp24Gly) variant of PTH (Parathyroid hormone)
D24G (p.Asp24Gly) in PTH (Parathyroid hormone) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data, published literature, and structural context.
D24G (p.Asp24Gly) variant details
- p.Asp24Gly
- gnomAD 11-13492785-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.468
- REVEL 0.44
- MetaLR 0.60
- MetaSVM 0.22
- CADD 25.10
- PolyPhen-2 0.54
- SIFT 0.01
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available
- Literature evidence available