P8S (p.Pro8Ser) variant of BMPR2 (Q13873)
P8S (p.Pro8Ser) in BMPR2 (Q13873) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data, published literature, and structural context.
P8S (p.Pro8Ser) variant details
- p.Pro8Ser
- gnomAD 2-202377496-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.293
- REVEL 0.15
- CADD 19.30
- PolyPhen-2 0.05
- SIFT 0.40
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available