T138M (p.Thr138Met) variant of PCSK1 (Neuroendocrine convertase 1)
T138M (p.Thr138Met) in PCSK1 (Neuroendocrine convertase 1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of PCSK1-related disorder; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data and structural context.
T138M (p.Thr138Met) variant details
- p.Thr138Met
- rs759857993
- ClinGen CA3350485
- ClinVar RCV003427866
- ClinVar RCV003883992
- Conflicting interpretations
- PCSK1-related disorder; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.357
- REVEL 0.26
- MetaLR 0.49
- MetaSVM -0.01
- CADD 25.20
- PolyPhen-2 0.54
- SIFT 0.09
- ClinVar: Conflicting classifications of pathogenicity (PCSK1-related disorder; not provided)
- EBI: Likely benign
- UniProt: Likely benign
- Population evidence available
- Structural context available