T65I (p.Thr65Ile) variant of BMPR2 (Q13873)
T65I (p.Thr65Ile) in BMPR2 (Q13873) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data, published literature, and structural context.
T65I (p.Thr65Ile) variant details
- p.Thr65Ile
- gnomAD 2-202464926-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.492
- REVEL 0.35
- CADD 17.10
- PolyPhen-2 0.01
- SIFT 0.42
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Literature evidence available