D62N (p.Asp62Asn) variant of LRP4 (O75096)
D62N (p.Asp62Asn) in LRP4 (O75096) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases; Cenani-Lenz syndactyly syndrome; Congenital myasthenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.96 / 1. The record also includes population frequency data, published literature, and structural context.
D62N (p.Asp62Asn) variant details
- p.Asp62Asn
- rs1050038014
- ClinGen CA221658202
- ClinVar RCV003782150
- ClinVar RCV005353285
- Uncertain significance
- Inborn genetic diseases; Cenani-Lenz syndactyly syndrome; Congenital myasthenic
- Missense
- Variant Prioritization Score for Impact Estimate 0.957
- AlphaMissense 0.99
- MetaLR 0.98
- MetaSVM 1.06
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.79
- ClinVar: Uncertain significance (Inborn genetic diseases; Cenani-Lenz syndactyly syndrome; Congen)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available
- Cited in: Congenital Myasthenic Syndromes Overview. (PMID 20301347)
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)