S123N (p.Ser123Asn) variant of LRP2 (P98164)
S123N (p.Ser123Asn) in LRP2 (P98164) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.07 / 1. The record also includes population frequency data and structural context.
S123N (p.Ser123Asn) variant details
- p.Ser123Asn
- rs1684446974
- ClinGen CA349168474
- cosmic curated COSV10584
- ClinVar RCV002000328
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.0666
- CADD 0.38
- PolyPhen-2 0.00
- SIFT 0.53
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 0.00031)
- Structural context available