R632C (p.Arg632Cys) variant of LRP4 (O75096)
R632C (p.Arg632Cys) in LRP4 (O75096) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Cenani-Lenz syndactyly syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.95 / 1. The record also includes population frequency data and structural context.
R632C (p.Arg632Cys) variant details
- p.Arg632Cys
- rs1941393359
- ClinGen CA380282485
- NCI-TCGA Cosmic COSV1010
- Likely pathogenic
- Cenani-Lenz syndactyly syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.952
- AlphaMissense 0.99
- MetaLR 0.97
- MetaSVM 1.08
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.82
- ClinVar: Likely pathogenic (Cenani-Lenz syndactyly syndrome)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Population evidence available
- Structural context available