K26N (p.Lys26Asn) variant of PTH (Parathyroid hormone)
K26N (p.Lys26Asn) in PTH (Parathyroid hormone) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data and structural context.
K26N (p.Lys26Asn) variant details
- p.Lys26Asn
- gnomAD rs1311289285
- Missense
- Variant Prioritization Score for Impact Estimate 0.281
- REVEL 0.28
- MetaLR 0.41
- MetaSVM -0.55
- CADD 15.10
- PolyPhen-2 0.09
- SIFT 0.06
- Most common in the African/African-American population (allele frequency 0.00012)
- Structural context available