A422T (p.Ala422Thr) variant of LRP5 (O75197)
A422T (p.Ala422Thr) in LRP5 (O75197) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Polycystic liver disease 4 with or without kidney cysts; Exudative vitreoretinop. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes population frequency data, published literature, and structural context.
A422T (p.Ala422Thr) variant details
- p.Ala422Thr
- rs774342727
- NCI-TCGA Cosmic COSV5371
- UniProt VAR 071012
- ExAC rs774342727
- Likely pathogenic
- Polycystic liver disease 4 with or without kidney cysts; Exudative vitreoretinop
- Missense
- Variant Prioritization Score for Impact Estimate 0.858
- REVEL 0.93
- CADD 27.20
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (Polycystic liver disease 4 with or without kidney cysts; Exudati)
- EBI: Pathogenic (in EVR4)
- UniProt: Pathogenic (in EVR4)
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available
- Cited in: Identification of two novel LRP5 mutations in families with familial exudative vitreoretinopathy. (PMID 24715757)
- Cited in: Mutations in LRP5 or FZD4 underlie the common familial exudative vitreoretinopathy locus on chromosome 11q. (PMID 15024691)