R107K (p.Arg107Lys) variant of PCSK1 (Neuroendocrine convertase 1)
R107K (p.Arg107Lys) in PCSK1 (Neuroendocrine convertase 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data and structural context.
R107K (p.Arg107Lys) variant details
- p.Arg107Lys
- ExAC rs776713450
- gnomAD rs776713450
- Missense
- Variant Prioritization Score for Impact Estimate 0.593
- REVEL 0.44
- MetaLR 0.63
- MetaSVM 0.51
- CADD 25.60
- PolyPhen-2 1.00
- SIFT 0.00
- Population evidence available
- Structural context available