H15H (p.His15His) variant of AGTRAP (Q6RW13)
H15H (p.His15His) in AGTRAP (Q6RW13) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.08 / 1. The record also includes population frequency data, published literature, and structural context.
H15H (p.His15His) variant details
- p.His15His
- rs1041791118
- gnomAD 1-11744568-C-T
- Splice Region
- Variant Prioritization Score for Impact Estimate 0.0828
- CADD 0.30
- Most common in the South Asian population (allele frequency 3.2e-05)
- Structural context available
- Literature evidence available