A3V (p.Ala3Val) variant of LRP5 (O75197)
A3V (p.Ala3Val) in LRP5 (O75197) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data and structural context.
A3V (p.Ala3Val) variant details
- p.Ala3Val
- TOPMed rs2098589178
- gnomAD rs2098589178
- Missense
- Variant Prioritization Score for Impact Estimate 0.293
- REVEL 0.15
- CADD 20.40
- PolyPhen-2 0.00
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available