G23G (p.Gly23Gly) variant of BMPR1A (P36894)
G23G (p.Gly23Gly) in BMPR1A (P36894) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data, published literature, and structural context.
G23G (p.Gly23Gly) variant details
- p.Gly23Gly
- rs780227469
- gnomAD 10-86890063-A-G
- Splice Region
- Variant Prioritization Score for Impact Estimate 0.37
- CADD 15.00
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Literature evidence available