A99V (p.Ala99Val) variant of PCSK1 (Neuroendocrine convertase 1)
A99V (p.Ala99Val) 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 0.36 / 1. The record also includes population frequency data and structural context.
A99V (p.Ala99Val) variant details
- p.Ala99Val
- rs776019151
- ClinGen CA3350523
- ClinVar RCV001979145
- ClinVar RCV004746535
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.358
- REVEL 0.24
- MetaLR 0.08
- MetaSVM -1.11
- CADD 23.20
- PolyPhen-2 0.40
- SIFT 0.22
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 4.4e-05)
- Structural context available