S24G (p.Ser24Gly) variant of PCSK1 (Neuroendocrine convertase 1)
S24G (p.Ser24Gly) in PCSK1 (Neuroendocrine convertase 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data and structural context.
S24G (p.Ser24Gly) variant details
- p.Ser24Gly
- gnomAD rs1297020758
- Missense
- Variant Prioritization Score for Impact Estimate 0.143
- REVEL 0.13
- MetaLR 0.11
- MetaSVM -1.06
- CADD 6.18
- PolyPhen-2 0.00
- SIFT 0.57
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available