S61W (p.Ser61Trp) variant of BMPR2 (Q13873)
S61W (p.Ser61Trp) in BMPR2 (Q13873) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes population frequency data, published literature, and structural context.
S61W (p.Ser61Trp) variant details
- p.Ser61Trp
- gnomAD 2-202464914-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.708
- REVEL 0.66
- CADD 25.20
- PolyPhen-2 0.68
- SIFT 0.04
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Literature evidence available