S27Y (p.Ser27Tyr) variant of PTH (Parathyroid hormone)
S27Y (p.Ser27Tyr) in PTH (Parathyroid hormone) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data and structural context.
S27Y (p.Ser27Tyr) variant details
- p.Ser27Tyr
- ExAC rs767807443
- gnomAD rs767807443
- Missense
- Variant Prioritization Score for Impact Estimate 0.328
- REVEL 0.26
- MetaLR 0.33
- MetaSVM -0.61
- CADD 22.50
- PolyPhen-2 0.04
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 0.00012)
- Structural context available