I17F (p.Ile17Phe) variant of BMPR1A (P36894)
I17F (p.Ile17Phe) in BMPR1A (P36894) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
I17F (p.Ile17Phe) variant details
- p.Ile17Phe
- gnomAD 10-86876067-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.322
- REVEL 0.41
- CADD 17.10
- PolyPhen-2 0.00
- SIFT 0.14
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available