A50S (p.Ala50Ser) variant of PCSK1 (Neuroendocrine convertase 1)
A50S (p.Ala50Ser) in PCSK1 (Neuroendocrine convertase 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data and structural context.
A50S (p.Ala50Ser) variant details
- p.Ala50Ser
- Ensembl rs1761552044
- Missense
- Variant Prioritization Score for Impact Estimate 0.478
- REVEL 0.31
- MetaLR 0.31
- MetaSVM -0.47
- CADD 26.20
- PolyPhen-2 0.82
- SIFT 0.01
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available