Q42E (p.Gln42Glu) variant of BMPR2 (Q13873)
Q42E (p.Gln42Glu) in BMPR2 (Q13873) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data, published literature, and structural context.
Q42E (p.Gln42Glu) variant details
- p.Gln42Glu
- gnomAD 2-202464856-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.602
- REVEL 0.54
- CADD 17.70
- PolyPhen-2 0.20
- SIFT 0.55
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available