S108T (p.Ser108Thr) variant of PCSK1 (Neuroendocrine convertase 1)
S108T (p.Ser108Thr) 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 Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data, published literature, and structural context.
S108T (p.Ser108Thr) variant details
- p.Ser108Thr
- rs1761291996
- ClinGen CA360484753
- ClinVar RCV003295057
- Ensembl rs1761291996
- Likely benign
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.13
- REVEL 0.03
- MetaLR 0.08
- MetaSVM -1.04
- CADD 5.97
- PolyPhen-2 0.00
- SIFT 0.82
- ClinVar: Likely benign (Inborn genetic diseases)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 7.2e-06)
- Structural context available
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)
- Cited in: Including the initial newborn screening bloodspot collection device serial number on birth certificates: basis and… (PMID 23037933)