A26A (p.Ala26Ala) variant of BMPR2 (Q13873)
A26A (p.Ala26Ala) in BMPR2 (Q13873) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
A26A (p.Ala26Ala) variant details
- p.Ala26Ala
- gnomAD 2-202464810-T-C
- Splice Region
- Variant Prioritization Score for Impact Estimate 0.321
- CADD 15.50
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available