L216R (p.Leu216Arg) variant of LPA (Apolipoprotein(a))
L216R (p.Leu216Arg) in LPA (Apolipoprotein(a)) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data and structural context.
L216R (p.Leu216Arg) variant details
- p.Leu216Arg
- Ensembl rs1562350210
- Missense
- Variant Prioritization Score for Impact Estimate 0.449
- REVEL 0.35
- MetaLR 0.46
- MetaSVM -0.55
- CADD 26.40
- PolyPhen-2 1.00
- SIFT 0.03
- Most common in the African/African-American population (allele frequency 0.00011)
- Structural context available