G118V (p.Gly118Val) variant of LRP2 (P98164)
G118V (p.Gly118Val) 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 0.66 / 1. The record also includes population frequency data and structural context.
G118V (p.Gly118Val) variant details
- p.Gly118Val
- ExAC rs780310223
- TOPMed rs780310223
- gnomAD rs780310223
- Uncertain significance
- Donnai-Barrow syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.662
- CADD 23.60
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (Donnai-Barrow syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:MSL population (allele frequency 0.013)
- Structural context available