S4S (p.Ser4Ser) variant of BMPR2 (Q13873)
S4S (p.Ser4Ser) in BMPR2 (Q13873) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data, published literature, and structural context.
S4S (p.Ser4Ser) variant details
- p.Ser4Ser
- rs1255662189
- gnomAD 2-202377486-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.372
- CADD 13.90
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available
- Literature evidence available