P76S (p.Pro76Ser) variant of PCSK1 (Neuroendocrine convertase 1)
P76S (p.Pro76Ser) 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 PCSK1-related disorder. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data and structural context.
P76S (p.Pro76Ser) variant details
- p.Pro76Ser
- rs371368465
- ClinGen CA3350555
- ClinVar RCV003393083
- ESP rs371368465
- Uncertain significance
- PCSK1-related disorder
- Missense
- Variant Prioritization Score for Impact Estimate 0.377
- REVEL 0.18
- MetaLR 0.07
- MetaSVM -1.10
- CADD 22.00
- PolyPhen-2 0.21
- SIFT 0.07
- ClinVar: Uncertain significance (PCSK1-related disorder)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available