S63L (p.Ser63Leu) variant of PCSK1 (Neuroendocrine convertase 1)
S63L (p.Ser63Leu) in PCSK1 (Neuroendocrine convertase 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data and structural context.
S63L (p.Ser63Leu) variant details
- p.Ser63Leu
- cosmic curated COSV10942
- ExAC rs756287752
- gnomAD rs756287752
- Missense
- Variant Prioritization Score for Impact Estimate 0.365
- REVEL 0.15
- MetaLR 0.09
- MetaSVM -1.00
- CADD 23.30
- PolyPhen-2 0.12
- SIFT 0.09
- Most common in the Non-Finnish European population (allele frequency 8.6e-06)
- Structural context available