V52G (p.Val52Gly) variant of PTH (Parathyroid hormone)
V52G (p.Val52Gly) in PTH (Parathyroid hormone) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data, published literature, and structural context.
V52G (p.Val52Gly) variant details
- p.Val52Gly
- gnomAD 11-13492598-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.402
- REVEL 0.42
- MetaLR 0.43
- MetaSVM -0.09
- CADD 18.60
- PolyPhen-2 0.33
- SIFT 0.01
- Most common in the African/African-American population (allele frequency 0.00031)
- Structural context available
- Literature evidence available