S27C (p.Ser27Cys) variant of AGTRAP (Q6RW13)
S27C (p.Ser27Cys) in AGTRAP (Q6RW13) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data, published literature, and structural context.
S27C (p.Ser27Cys) variant details
- p.Ser27Cys
- gnomAD 1-11744543-CCA-C
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.427
- CADD 3.67
- Population evidence available
- Structural context available
- Literature evidence available