L22P (p.Leu22Pro) variant of PCSK1 (Neuroendocrine convertase 1)
L22P (p.Leu22Pro) 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 0.28 / 1. The record also includes population frequency data and structural context.
L22P (p.Leu22Pro) variant details
- p.Leu22Pro
- rs201377789
- ClinGen CA3350605
- ClinVar RCV001942412
- ClinVar RCV003913428
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.284
- REVEL 0.31
- MetaLR 0.13
- MetaSVM -1.00
- CADD 17.00
- PolyPhen-2 0.00
- SIFT 0.38
- ClinVar: Uncertain significance (not provided)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the 1KG:MSL population (allele frequency 0.019)
- Structural context available