D54E (p.Asp54Glu) variant of BMPR1A (P36894)
D54E (p.Asp54Glu) in BMPR1A (P36894) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data, published literature, and structural context.
D54E (p.Asp54Glu) variant details
- p.Asp54Glu
- gnomAD 10-86890156-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.362
- REVEL 0.52
- CADD 12.60
- PolyPhen-2 0.14
- SIFT 0.06
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available
- Literature evidence available