H30R (p.His30Arg) variant of LPA (Apolipoprotein(a))
H30R (p.His30Arg) 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 0.18 / 1. The record also includes population frequency data and structural context.
H30R (p.His30Arg) variant details
- p.His30Arg
- rs1316313933
- NCI-TCGA Cosmic COSV6030
- gnomAD rs1316313933
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.176
- REVEL 0.02
- MetaLR 0.07
- MetaSVM -1.01
- CADD 14.10
- PolyPhen-2 0.97
- SIFT 0.56
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available