R16Q (p.Arg16Gln) variant of SRC (P12931)
R16Q (p.Arg16Gln) in SRC (P12931) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
R16Q (p.Arg16Gln) variant details
- p.Arg16Gln
- gnomAD 20-37384197-GCC-G
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.763
- CADD 26.20
- Population evidence available
- Structural context available
- SRC SH3 domain domainome 1.0: score -0.466
- Literature evidence available