S49S (p.Ser49Ser) variant of BMPR2 (Q13873)
S49S (p.Ser49Ser) in BMPR2 (Q13873) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
S49S (p.Ser49Ser) variant details
- p.Ser49Ser
- rs150080314
- gnomAD 2-202464879-T-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.311
- CADD 13.90
- Most common in the East Asian population (allele frequency 0.0001)
- Structural context available
- Literature evidence available