K26N (p.Lys26Asn) variant of PCSK1 (Neuroendocrine convertase 1)
K26N (p.Lys26Asn) in PCSK1 (Neuroendocrine convertase 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data and structural context.
K26N (p.Lys26Asn) variant details
- p.Lys26Asn
- gnomAD rs1208489419
- Missense
- Variant Prioritization Score for Impact Estimate 0.18
- REVEL 0.06
- MetaLR 0.13
- MetaSVM -1.01
- CADD 19.00
- PolyPhen-2 0.01
- SIFT 0.56
- Most common in the Ashkenazi Jewish population (allele frequency 3.8e-05)
- Structural context available