K71Q (p.Lys71Gln) variant of PCSK1 (Neuroendocrine convertase 1)
K71Q (p.Lys71Gln) in PCSK1 (Neuroendocrine convertase 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data and structural context.
K71Q (p.Lys71Gln) variant details
- p.Lys71Gln
- TOPMed rs1284647524
- gnomAD rs1284647524
- Missense
- Variant Prioritization Score for Impact Estimate 0.253
- REVEL 0.03
- MetaLR 0.05
- MetaSVM -1.02
- CADD 21.90
- PolyPhen-2 0.03
- SIFT 0.17
- Most common in the Non-Finnish European population (allele frequency 3.7e-06)
- Structural context available