H3Y (p.His3Tyr) variant of LPA (Apolipoprotein(a))
H3Y (p.His3Tyr) 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 0.20 / 1. The record also includes population frequency data and structural context.
H3Y (p.His3Tyr) variant details
- p.His3Tyr
- rs957300092
- NCI-TCGA Cosmic COSV1003
- TOPMed rs957300092
- gnomAD rs957300092
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.2
- REVEL 0.07
- MetaLR 0.34
- MetaSVM -0.66
- CADD 16.50
- PolyPhen-2 0.55
- SIFT 1.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available