A4V (p.Ala4Val) variant of LRP5 (O75197)
A4V (p.Ala4Val) in LRP5 (O75197) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data and structural context.
A4V (p.Ala4Val) variant details
- p.Ala4Val
- gnomAD rs1389034811
- Missense
- Variant Prioritization Score for Impact Estimate 0.334
- REVEL 0.28
- CADD 20.80
- PolyPhen-2 0.50
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00022)
- Structural context available