K88R (p.Lys88Arg) variant of PCSK1 (Neuroendocrine convertase 1)
K88R (p.Lys88Arg) 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.
K88R (p.Lys88Arg) variant details
- p.Lys88Arg
- cosmic curated COSV60738
- TOPMed rs1422794750
- gnomAD rs1422794750
- Missense
- Variant Prioritization Score for Impact Estimate 0.252
- REVEL 0.03
- MetaLR 0.06
- MetaSVM -1.08
- CADD 21.80
- PolyPhen-2 0.01
- SIFT 0.31
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available