A27V (p.Ala27Val) variant of PCSK1 (Neuroendocrine convertase 1)
A27V (p.Ala27Val) in PCSK1 (Neuroendocrine convertase 1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data and structural context.
A27V (p.Ala27Val) variant details
- p.Ala27Val
- rs527304866
- ClinGen CA3350602
- ClinVar RCV002927610
- ClinVar RCV003963428
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.239
- REVEL 0.05
- MetaLR 0.13
- MetaSVM -1.00
- CADD 21.50
- PolyPhen-2 0.00
- SIFT 0.38
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available