C60C (p.Cys60Cys) variant of BMPR2 (Q13873)
C60C (p.Cys60Cys) in BMPR2 (Q13873) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data, published literature, and structural context.
C60C (p.Cys60Cys) variant details
- p.Cys60Cys
- rs2105959771
- gnomAD 2-202464912-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.142
- CADD 8.66
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Literature evidence available