I86V (p.Ile86Val) variant of PCSK1 (Neuroendocrine convertase 1)
I86V (p.Ile86Val) 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.
I86V (p.Ile86Val) variant details
- p.Ile86Val
- gnomAD rs1400328008
- Missense
- Variant Prioritization Score for Impact Estimate 0.177
- REVEL 0.04
- MetaLR 0.05
- MetaSVM -1.07
- CADD 15.50
- PolyPhen-2 0.01
- SIFT 0.58
- Most common in the East Asian population (allele frequency 0.0001)
- Structural context available