K36R (p.Lys36Arg) variant of ITGB4 (Integrin beta-4)
K36R (p.Lys36Arg) in ITGB4 (Integrin beta-4) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data, published literature, and structural context.
K36R (p.Lys36Arg) variant details
- p.Lys36Arg
- rs2060737432
- gnomAD 17-75727220-GA-G
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.473
- CADD 32.00
- Population evidence available
- Structural context available
- Literature evidence available