A36T (p.Ala36Thr) variant of PCSK1 (Neuroendocrine convertase 1)
A36T (p.Ala36Thr) in PCSK1 (Neuroendocrine convertase 1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of PCSK1-related disorder. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data and structural context.
A36T (p.Ala36Thr) variant details
- p.Ala36Thr
- TOPMed rs937916641
- gnomAD rs937916641
- Likely pathogenic
- PCSK1-related disorder
- Missense
- Variant Prioritization Score for Impact Estimate 0.504
- REVEL 0.36
- MetaLR 0.27
- MetaSVM -0.44
- CADD 27.10
- PolyPhen-2 0.91
- SIFT 0.07
- ClinVar: Likely pathogenic (PCSK1-related disorder)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available