K5* (p.Lys5Ter) variant of SRC (P12931)
K5* (p.Lys5Ter) in SRC (P12931) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
K5* (p.Lys5Ter) variant details
- p.Lys5Ter
- gnomAD 20-37384166-A-T
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.717
- CADD 38.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- SRC SH3 domain domainome 1.0: score -0.985
- Literature evidence available