E71A (p.Glu71Ala) variant of BMPR2 (Q13873)
E71A (p.Glu71Ala) in BMPR2 (Q13873) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes population frequency data and structural context.
E71A (p.Glu71Ala) variant details
- p.Glu71Ala
- ExAC rs778682407
- TOPMed rs778682407
- gnomAD rs778682407
- Missense
- Variant Prioritization Score for Impact Estimate 0.761
- REVEL 0.86
- CADD 24.20
- PolyPhen-2 0.62
- SIFT 0.09
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available