D172N (p.Asp172Asn) variant of LRP4 (O75096)
D172N (p.Asp172Asn) in LRP4 (O75096) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Sclerosteosis 2; Congenital myasthenic syndrome 17; Cenani-Lenz syndactyly syndr. The available variant effect predictions contribute to a CATVariant prioritization score of 0.97 / 1. The record also includes population frequency data, published literature, and structural context.
D172N (p.Asp172Asn) variant details
- p.Asp172Asn
- rs780819863
- ClinGen CA5970478
- NCI-TCGA Cosmic COSV6613
- ClinVar RCV002008563
- Uncertain significance
- Sclerosteosis 2; Congenital myasthenic syndrome 17; Cenani-Lenz syndactyly syndr
- Missense
- Variant Prioritization Score for Impact Estimate 0.971
- AlphaMissense 1.00
- MetaLR 0.98
- MetaSVM 1.07
- PolyPhen-2 1.00
- SIFT 0.02
- MutPred 0.89
- ClinVar: Uncertain significance (Sclerosteosis 2; Congenital myasthenic syndrome 17; Cenani-Lenz)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available
- Cited in: Congenital Myasthenic Syndromes Overview. (PMID 20301347)