S123N (p.Ser123Asn) variant of LPA (Apolipoprotein(a))
S123N (p.Ser123Asn) in LPA (Apolipoprotein(a)) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data and structural context.
S123N (p.Ser123Asn) variant details
- p.Ser123Asn
- gnomAD rs1399407878
- Missense
- Variant Prioritization Score for Impact Estimate 0.267
- REVEL 0.26
- MetaLR 0.41
- MetaSVM -0.64
- CADD 18.40
- PolyPhen-2 0.99
- SIFT 0.27
- Most common in the African/African-American population (allele frequency 0.0019)
- Structural context available