C202F (p.Cys202Phe) variant of LPA (Apolipoprotein(a))
C202F (p.Cys202Phe) in LPA (Apolipoprotein(a)) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data and structural context.
C202F (p.Cys202Phe) variant details
- p.Cys202Phe
- cosmic curated COSV60308
- gnomAD rs1441807701
- Missense
- Variant Prioritization Score for Impact Estimate 0.586
- REVEL 0.47
- MetaLR 0.81
- MetaSVM 0.13
- CADD 24.90
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the East Asian population (allele frequency 7.8e-05)
- Structural context available