E71Q (p.Glu71Gln) variant of BMPR2 (Q13873)
E71Q (p.Glu71Gln) in BMPR2 (Q13873) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes population frequency data, published literature, and structural context.
E71Q (p.Glu71Gln) variant details
- p.Glu71Gln
- gnomAD 2-202464943-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.737
- REVEL 0.72
- CADD 23.90
- PolyPhen-2 0.96
- SIFT 0.10
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available