S53L (p.Ser53Leu) variant of LPA (Apolipoprotein(a))
S53L (p.Ser53Leu) 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 0.16 / 1. The record also includes population frequency data and structural context.
S53L (p.Ser53Leu) variant details
- p.Ser53Leu
- rs777971266
- NCI-TCGA Cosmic COSV6031
- ExAC rs777971266
- gnomAD rs777971266
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.164
- REVEL 0.13
- MetaLR 0.13
- MetaSVM -0.90
- CADD 13.20
- PolyPhen-2 0.99
- SIFT 0.15
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available