P12L (p.Pro12Leu) variant of BMPR2 (Q13873)
P12L (p.Pro12Leu) in BMPR2 (Q13873) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data and structural context.
P12L (p.Pro12Leu) variant details
- p.Pro12Leu
- 1000Genomes rs373783006
- ESP rs373783006
- ExAC rs373783006
- TOPMed rs373783006
- Missense
- Variant Prioritization Score for Impact Estimate 0.332
- REVEL 0.21
- CADD 22.40
- PolyPhen-2 0.00
- SIFT 0.13
- Most common in the 1KG:ESN population (allele frequency 0.0049)
- Structural context available