W6R (p.Trp6Arg) variant of PCSK1 (Neuroendocrine convertase 1)
W6R (p.Trp6Arg) in PCSK1 (Neuroendocrine convertase 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data and structural context.
W6R (p.Trp6Arg) variant details
- p.Trp6Arg
- TOPMed rs1761557480
- Missense
- Variant Prioritization Score for Impact Estimate 0.27
- REVEL 0.25
- MetaLR 0.11
- MetaSVM -1.04
- CADD 21.70
- PolyPhen-2 0.00
- SIFT 0.64
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available