A18T (p.Ala18Thr) variant of LPA (Apolipoprotein(a))
A18T (p.Ala18Thr) in LPA (Apolipoprotein(a)) 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 0.25 / 1. The record also includes population frequency data and structural context.
A18T (p.Ala18Thr) variant details
- p.Ala18Thr
- NCI-TCGA Cosmic COSV6031
- Ensembl rs1779985147
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.249
- REVEL 0.21
- MetaLR 0.37
- MetaSVM -0.66
- CADD 5.21
- PolyPhen-2 0.18
- SIFT 0.36
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available