L8A (p.Leu8Ala) variant of CDH1 (Cadherin-1)
L8A (p.Leu8Ala) in CDH1 (Cadherin-1) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data, published literature, and structural context.
L8A (p.Leu8Ala) variant details
- p.Leu8Ala
- gnomAD 19-3523008-C-CGGC
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.465
- CADD 33.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available