V28A (p.Val28Ala) variant of PTH (Parathyroid hormone)
V28A (p.Val28Ala) in PTH (Parathyroid hormone) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data and structural context.
V28A (p.Val28Ala) variant details
- p.Val28Ala
- ExAC rs759709735
- gnomAD rs759709735
- Missense
- Variant Prioritization Score for Impact Estimate 0.415
- REVEL 0.32
- MetaLR 0.44
- MetaSVM -0.56
- CADD 19.30
- PolyPhen-2 0.01
- SIFT 0.09
- Most common in the African/African-American population (allele frequency 0.00031)
- Structural context available