I58M (p.Ile58Met) variant of BMPR2 (Q13873)
I58M (p.Ile58Met) in BMPR2 (Q13873) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data and structural context.
I58M (p.Ile58Met) variant details
- p.Ile58Met
- ExAC rs752005716
- gnomAD rs752005716
- Missense
- Variant Prioritization Score for Impact Estimate 0.531
- REVEL 0.43
- CADD 23.00
- PolyPhen-2 0.37
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 3.6e-06)
- Structural context available