L4I (p.Leu4Ile) variant of BMPR1A (P36894)
L4I (p.Leu4Ile) in BMPR1A (P36894) is a missense 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.
L4I (p.Leu4Ile) variant details
- p.Leu4Ile
- gnomAD 10-86876028-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.302
- REVEL 0.18
- CADD 16.70
- PolyPhen-2 0.00
- SIFT 0.16
- Population evidence available
- Structural context available
- Literature evidence available