K30N (p.Lys30Asn) variant of PTH (Parathyroid hormone)
K30N (p.Lys30Asn) in PTH (Parathyroid hormone) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data and structural context.
K30N (p.Lys30Asn) variant details
- p.Lys30Asn
- TOPMed rs1847490033
- Missense
- Variant Prioritization Score for Impact Estimate 0.552
- REVEL 0.65
- MetaLR 0.71
- MetaSVM 0.41
- CADD 25.30
- PolyPhen-2 0.91
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available