N193D (p.Asn193Asp) variant of LPA (Apolipoprotein(a))
N193D (p.Asn193Asp) in LPA (Apolipoprotein(a)) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data and structural context.
N193D (p.Asn193Asp) variant details
- p.Asn193Asp
- Ensembl rs1779837084
- Missense
- Variant Prioritization Score for Impact Estimate 0.465
- REVEL 0.35
- MetaLR 0.63
- MetaSVM -0.11
- CADD 26.70
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 2.5e-05)
- Structural context available