I156T (p.Ile156Thr) variant of PCSK1 (Neuroendocrine convertase 1)
I156T (p.Ile156Thr) 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 0.72 / 1. The record also includes population frequency data and structural context.
I156T (p.Ile156Thr) variant details
- p.Ile156Thr
- rs368303692
- ClinGen CA3350478
- ClinVar RCV003392758
- ESP rs368303692
- Uncertain significance
- PCSK1-related disorder
- Missense
- Variant Prioritization Score for Impact Estimate 0.717
- REVEL 0.81
- MetaLR 0.61
- MetaSVM 0.38
- CADD 25.80
- PolyPhen-2 0.63
- SIFT 0.00
- ClinVar: Uncertain significance (PCSK1-related disorder)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 0.00031)
- Structural context available