I46T (p.Ile46Thr) variant of BMPR2 (Q13873)
I46T (p.Ile46Thr) in BMPR2 (Q13873) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data, published literature, and structural context.
I46T (p.Ile46Thr) variant details
- p.Ile46Thr
- gnomAD 2-202464869-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.543
- REVEL 0.51
- CADD 21.10
- PolyPhen-2 0.09
- SIFT 0.62
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Literature evidence available