A21E (p.Ala21Glu) variant of LRP5 (O75197)
A21E (p.Ala21Glu) in LRP5 (O75197) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data, published literature, and structural context.
A21E (p.Ala21Glu) variant details
- p.Ala21Glu
- gnomAD 11-68312776-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.206
- REVEL 0.21
- CADD 5.64
- PolyPhen-2 0.01
- SIFT 0.27
- Most common in the South Asian population (allele frequency 3.1e-05)
- Structural context available
- Literature evidence available