R80Q (p.Arg80Gln) variant of PCSK1 (Neuroendocrine convertase 1)
R80Q (p.Arg80Gln) in PCSK1 (Neuroendocrine convertase 1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign/likely benign in the context of not specified; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data, published literature, and structural context.
R80Q (p.Arg80Gln) variant details
- p.Arg80Gln
- rs1799904
- ClinGen CA3350550
- cosmic curated COSV10942
- ClinVar RCV001822203
- Benign/Likely benign
- not specified; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.399
- REVEL 0.21
- MetaLR 0.06
- MetaSVM -0.96
- CADD 23.60
- PolyPhen-2 0.56
- SIFT 0.04
- ClinVar: Benign/Likely benign (not specified; not provided)
- EBI: Benign (in dbSNP:rs1799904)
- UniProt: Benign (in dbSNP:rs1799904)
- Most common in the HGDP:SHE population (allele frequency 0.11)
- Structural context available
- Cited in: Human prohormone convertase 3 gene: exon-intron organization and molecular scanning for mutations in Japanese subjects… (PMID 8666140)