K30A (p.Lys30Ala) variant of ID3 (Q02535)
K30A (p.Lys30Ala) in ID3 (Q02535) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data and published literature.
K30A (p.Lys30Ala) variant details
- p.Lys30Ala
- gnomAD 1-23559320-TCCTCA
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.676
- CADD 32.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Literature evidence available