p.Ala4 Pro6del variant of LRP5 (O75197)
p.Ala4 Pro6del in LRP5 (O75197) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data, published literature, and structural context.
p.Ala4 Pro6del variant details
- gnomAD 11-68312723-AGCGC
- Inframe Deletion
- Variant Prioritization Score for Impact Estimate 0.347
- CADD 14.80
- Most common in the South Asian population (allele frequency 0.00012)
- Structural context available
- Literature evidence available