C23G (p.Cys23Gly) variant of LRP5 (O75197)
C23G (p.Cys23Gly) in LRP5 (O75197) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data and structural context.
C23G (p.Cys23Gly) variant details
- p.Cys23Gly
- rs2098589360
- ClinGen CA381607520
- ClinVar RCV002663268
- gnomAD rs2098589360
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.371
- REVEL 0.20
- CADD 16.40
- PolyPhen-2 0.00
- SIFT 0.07
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 6.8e-05)
- Structural context available