S104L (p.Ser104Leu) variant of LRP2 (P98164)
S104L (p.Ser104Leu) in LRP2 (P98164) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Donnai-Barrow syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data and structural context.
S104L (p.Ser104Leu) variant details
- p.Ser104Leu
- gnomAD rs1396320167
- Uncertain significance
- Donnai-Barrow syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.388
- CADD 18.40
- PolyPhen-2 0.04
- SIFT 0.09
- ClinVar: Uncertain significance (Donnai-Barrow syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available