K29N (p.Lys29Asn) variant of PTH (Parathyroid hormone)
K29N (p.Lys29Asn) in PTH (Parathyroid hormone) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data and structural context.
K29N (p.Lys29Asn) variant details
- p.Lys29Asn
- gnomAD rs1214802214
- Missense
- Variant Prioritization Score for Impact Estimate 0.389
- REVEL 0.35
- MetaLR 0.47
- MetaSVM 0.08
- CADD 27.20
- PolyPhen-2 0.45
- SIFT 0.05
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available