S64G (p.Ser64Gly) variant of BMPR2 (Q13873)
S64G (p.Ser64Gly) in BMPR2 (Q13873) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance in the context of in PPH1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data and structural context.
S64G (p.Ser64Gly) variant details
- p.Ser64Gly
- TOPMed rs1391212374
- Uncertain significance
- in PPH1
- Missense
- Variant Prioritization Score for Impact Estimate 0.592
- REVEL 0.59
- CADD 22.50
- PolyPhen-2 0.25
- SIFT 0.12
- EBI: uncertain significance (in PPH1)
- UniProt: Uncertain significance (in PPH1)
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available