L17R (p.Leu17Arg) variant of ID3 (Q02535)
L17R (p.Leu17Arg) in ID3 (Q02535) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data, published literature, and structural context.
L17R (p.Leu17Arg) variant details
- p.Leu17Arg
- gnomAD 1-23559375-ACAGG-
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.632
- CADD 25.70
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available