R81S (p.Arg81Ser) variant of PCSK1 (Neuroendocrine convertase 1)
R81S (p.Arg81Ser) in PCSK1 (Neuroendocrine convertase 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data and structural context.
R81S (p.Arg81Ser) variant details
- p.Arg81Ser
- gnomAD rs1398624849
- Missense
- Variant Prioritization Score for Impact Estimate 0.424
- REVEL 0.24
- MetaLR 0.11
- MetaSVM -1.04
- CADD 22.90
- PolyPhen-2 0.93
- SIFT 0.04
- Most common in the Non-Finnish European population (allele frequency 3.6e-06)
- Structural context available