A99P (p.Ala99Pro) variant of PCSK1 (Neuroendocrine convertase 1)
A99P (p.Ala99Pro) in PCSK1 (Neuroendocrine convertase 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data and structural context.
A99P (p.Ala99Pro) variant details
- p.Ala99Pro
- TOPMed rs1282004766
- gnomAD rs1282004766
- Missense
- Variant Prioritization Score for Impact Estimate 0.559
- REVEL 0.49
- MetaLR 0.29
- MetaSVM -0.44
- CADD 25.70
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available