I18V (p.Ile18Val) variant of BMPR2 (Q13873)
I18V (p.Ile18Val) in BMPR2 (Q13873) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data, published literature, and structural context.
I18V (p.Ile18Val) variant details
- p.Ile18Val
- gnomAD 2-202377526-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.35
- REVEL 0.17
- CADD 11.90
- PolyPhen-2 0.00
- SIFT 1.00
- Most common in the Non-Finnish European population (allele frequency 3.6e-06)
- Structural context available
- Literature evidence available