F13L (p.Phe13Leu) variant of PCSK1 (Neuroendocrine convertase 1)
F13L (p.Phe13Leu) in PCSK1 (Neuroendocrine convertase 1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data and structural context.
F13L (p.Phe13Leu) variant details
- p.Phe13Leu
- rs748979266
- ClinGen CA3350608
- ClinVar RCV002853294
- ExAC rs748979266
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.227
- REVEL 0.12
- MetaLR 0.06
- MetaSVM -1.03
- CADD 15.70
- PolyPhen-2 0.00
- SIFT 1.00
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available