I61F (p.Ile61Phe) variant of PCSK1 (Neuroendocrine convertase 1)
I61F (p.Ile61Phe) in PCSK1 (Neuroendocrine convertase 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data and structural context.
I61F (p.Ile61Phe) variant details
- p.Ile61Phe
- gnomAD rs1270940943
- Missense
- Variant Prioritization Score for Impact Estimate 0.482
- REVEL 0.40
- MetaLR 0.27
- MetaSVM -0.45
- CADD 31.00
- PolyPhen-2 0.90
- SIFT 0.02
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available