K29R (p.Lys29Arg) variant of PTH (Parathyroid hormone)
K29R (p.Lys29Arg) in PTH (Parathyroid hormone) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data and structural context.
K29R (p.Lys29Arg) variant details
- p.Lys29Arg
- ExAC rs774514236
- gnomAD rs774514236
- Missense
- Variant Prioritization Score for Impact Estimate 0.2
- REVEL 0.08
- MetaLR 0.22
- MetaSVM -0.95
- CADD 13.90
- PolyPhen-2 0.01
- SIFT 0.45
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00019)
- Structural context available