P40S (p.Pro40Ser) variant of PCSK1 (Neuroendocrine convertase 1)
P40S (p.Pro40Ser) in PCSK1 (Neuroendocrine convertase 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data and structural context.
P40S (p.Pro40Ser) variant details
- p.Pro40Ser
- Ensembl rs1475159276
- Missense
- Variant Prioritization Score for Impact Estimate 0.242
- REVEL 0.07
- MetaLR 0.07
- MetaSVM -1.09
- CADD 21.90
- PolyPhen-2 0.00
- SIFT 0.14
- Most common in the East Asian population (allele frequency 5e-05)
- Structural context available