G62S (p.Gly62Ser) variant of PCSK1 (Neuroendocrine convertase 1)
G62S (p.Gly62Ser) in PCSK1 (Neuroendocrine convertase 1) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. 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.
G62S (p.Gly62Ser) variant details
- p.Gly62Ser
- NCI-TCGA Cosmic COSV1002
- cosmic curated COSV10022
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.359
- REVEL 0.13
- MetaLR 0.11
- MetaSVM -0.99
- CADD 23.00
- PolyPhen-2 0.10
- SIFT 0.11
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the African/African-American population (allele frequency 3.2e-05)
- Structural context available