Y55C (p.Tyr55Cys) variant of PCSK1 (Neuroendocrine convertase 1)
Y55C (p.Tyr55Cys) in PCSK1 (Neuroendocrine convertase 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data and structural context.
Y55C (p.Tyr55Cys) variant details
- p.Tyr55Cys
- ExAC rs763965527
- gnomAD rs763965527
- Missense
- Variant Prioritization Score for Impact Estimate 0.501
- REVEL 0.50
- MetaLR 0.25
- MetaSVM -0.53
- CADD 32.00
- PolyPhen-2 0.97
- SIFT 0.01
- Population evidence available
- Structural context available