D145N (p.Asp145Asn) variant of PCSK1 (Neuroendocrine convertase 1)
D145N (p.Asp145Asn) in PCSK1 (Neuroendocrine convertase 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes population frequency data and structural context.
D145N (p.Asp145Asn) variant details
- p.Asp145Asn
- ExAC rs773206783
- gnomAD rs773206783
- Missense
- Variant Prioritization Score for Impact Estimate 0.754
- REVEL 0.73
- MetaLR 0.74
- MetaSVM 0.57
- CADD 27.10
- PolyPhen-2 1.00
- SIFT 0.02
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available