P12P (p.Pro12Pro) variant of BMPR2 (Q13873)
P12P (p.Pro12Pro) in BMPR2 (Q13873) is a synonymous 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.
P12P (p.Pro12Pro) variant details
- p.Pro12Pro
- gnomAD 2-202377510-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.316
- CADD 13.90
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available
- Literature evidence available