S22S (p.Ser22Ser) variant of BMPR2 (Q13873)
S22S (p.Ser22Ser) in BMPR2 (Q13873) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data, published literature, and structural context.
S22S (p.Ser22Ser) variant details
- p.Ser22Ser
- rs1004254626
- gnomAD 2-202377540-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.547
- CADD 18.10
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available
- Literature evidence available