K44Q (p.Lys44Gln) variant of PTH (Parathyroid hormone)
K44Q (p.Lys44Gln) in PTH (Parathyroid hormone) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data and structural context.
K44Q (p.Lys44Gln) variant details
- p.Lys44Gln
- gnomAD rs1162770261
- Missense
- Variant Prioritization Score for Impact Estimate 0.287
- REVEL 0.22
- MetaLR 0.41
- MetaSVM -0.27
- CADD 19.10
- PolyPhen-2 0.11
- SIFT 0.26
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available