V25I (p.Val25Ile) variant of LPA (Apolipoprotein(a))
V25I (p.Val25Ile) in LPA (Apolipoprotein(a)) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data and structural context.
V25I (p.Val25Ile) variant details
- p.Val25Ile
- rs1779984391
- ClinGen CA366349629
- ClinVar RCV004361611
- NCI-TCGA TCGA novel
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.207
- REVEL 0.07
- MetaLR 0.06
- MetaSVM -1.05
- CADD 14.50
- PolyPhen-2 0.88
- SIFT 0.10
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available