A112T (p.Ala112Thr) variant of PCSK1 (Neuroendocrine convertase 1)
A112T (p.Ala112Thr) in PCSK1 (Neuroendocrine convertase 1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data and structural context.
A112T (p.Ala112Thr) variant details
- p.Ala112Thr
- rs1028311261
- ClinGen CA122932662
- ClinVar RCV001699928
- TOPMed rs1028311261
- Likely benign
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.164
- REVEL 0.01
- MetaLR 0.17
- MetaSVM -0.95
- CADD 9.82
- PolyPhen-2 0.01
- SIFT 0.42
- ClinVar: Likely benign (not provided)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the REMAINING population (allele frequency 3.3e-05)
- Structural context available