D1288G (p.Asp1288Gly) variant of LRP5 (O75197)
D1288G (p.Asp1288Gly) in LRP5 (O75197) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of not provided; Polycystic liver disease 4 with or without kidney cysts; Exudative. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes population frequency data and structural context.
D1288G (p.Asp1288Gly) variant details
- p.Asp1288Gly
- rs762014835
- ClinGen CA6150135
- ClinVar RCV003079126
- ClinVar RCV005010960
- Likely pathogenic
- not provided; Polycystic liver disease 4 with or without kidney cysts; Exudative
- Missense
- Variant Prioritization Score for Impact Estimate 0.837
- REVEL 0.97
- CADD 29.20
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (not provided; Polycystic liver disease 4 with or without kidney)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available