P40H (p.Pro40His) variant of PCSK1 (Neuroendocrine convertase 1)
P40H (p.Pro40His) in PCSK1 (Neuroendocrine convertase 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data and structural context.
P40H (p.Pro40His) variant details
- p.Pro40His
- ExAC rs752976241
- gnomAD rs752976241
- Missense
- Variant Prioritization Score for Impact Estimate 0.325
- REVEL 0.14
- MetaLR 0.10
- MetaSVM -1.00
- CADD 23.50
- PolyPhen-2 0.00
- SIFT 0.10
- Most common in the South Asian population (allele frequency 5.8e-05)
- Structural context available