I17V (p.Ile17Val) variant of BMPR1A (P36894)
I17V (p.Ile17Val) in BMPR1A (P36894) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data and structural context.
I17V (p.Ile17Val) variant details
- p.Ile17Val
- ExAC rs778886055
- TOPMed rs778886055
- gnomAD rs778886055
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.15
- REVEL 0.14
- CADD 10.40
- PolyPhen-2 0.00
- SIFT 0.89
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 5e-05)
- Structural context available