I18I (p.Ile18Ile) variant of BMPR2 (Q13873)
I18I (p.Ile18Ile) in BMPR2 (Q13873) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data, published literature, and structural context.
I18I (p.Ile18Ile) variant details
- p.Ile18Ile
- gnomAD 2-202377528-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.297
- CADD 14.80
- Most common in the South Asian population (allele frequency 2.3e-05)
- Structural context available
- Literature evidence available