S3S (p.Ser3Ser) variant of BMPR2 (Q13873)
S3S (p.Ser3Ser) in BMPR2 (Q13873) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data, published literature, and structural context.
S3S (p.Ser3Ser) variant details
- p.Ser3Ser
- rs549281044
- gnomAD 2-202377483-C-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.237
- CADD 9.89
- Most common in the HGDP:PATHAN population (allele frequency 0.042)
- Structural context available
- Literature evidence available