A30V (p.Ala30Val) variant of PCSK9 (Proprotein convertase subtilisin/kexin type 9)
A30V (p.Ala30Val) in PCSK9 (Proprotein convertase subtilisin/kexin type 9) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data, published literature, and structural context.
A30V (p.Ala30Val) variant details
- p.Ala30Val
- gnomAD 1-55039926-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.273
- REVEL 0.21
- ESM-1b 0.00
- AlphaMissense 0.13
- MetaLR 0.27
- MetaSVM -0.48
- CADD 22.10
- Most common in the 1KG:CEU population (allele frequency 0.0042)
- Structural context available
- Literature evidence available