S52S (p.Ser52Ser) variant of BMPR2 (Q13873)
S52S (p.Ser52Ser) in BMPR2 (Q13873) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data, published literature, and structural context.
S52S (p.Ser52Ser) variant details
- p.Ser52Ser
- gnomAD 2-202464888-T-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.387
- CADD 13.20
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available