A51T (p.Ala51Thr) variant of LPA (Apolipoprotein(a))
A51T (p.Ala51Thr) 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 0.10 / 1. The record also includes population frequency data and structural context.
A51T (p.Ala51Thr) variant details
- p.Ala51Thr
- rs779750198
- NCI-TCGA Cosmic COSV6030
- ExAC rs779750198
- gnomAD rs779750198
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.103
- REVEL 0.08
- MetaLR 0.09
- MetaSVM -1.04
- CADD 1.26
- PolyPhen-2 1.00
- SIFT 0.13
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the South Asian population (allele frequency 2.3e-05)
- Structural context available