P39S (p.Pro39Ser) variant of BMPR2 (Q13873)
P39S (p.Pro39Ser) in BMPR2 (Q13873) is a missense change. 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.
P39S (p.Pro39Ser) variant details
- p.Pro39Ser
- cosmic curated COSV65808
- TOPMed rs1341714453
- gnomAD rs1341714453
- Missense
- Variant Prioritization Score for Impact Estimate 0.595
- REVEL 0.52
- CADD 17.50
- PolyPhen-2 0.13
- SIFT 0.80
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available