G61S (p.Gly61Ser) variant of LRP2 (P98164)
G61S (p.Gly61Ser) 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 0.47 / 1. The record also includes population frequency data and structural context.
G61S (p.Gly61Ser) variant details
- p.Gly61Ser
- gnomAD rs1483233129
- Uncertain significance
- Donnai-Barrow syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.474
- CADD 20.40
- PolyPhen-2 0.91
- SIFT 0.15
- ClinVar: Uncertain significance (Donnai-Barrow syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:BURUSHO population (allele frequency 0.042)
- Structural context available