Q30K (p.Gln30Lys) variant of BMPR2 (Q13873)
Q30K (p.Gln30Lys) in BMPR2 (Q13873) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data, published literature, and structural context.
Q30K (p.Gln30Lys) variant details
- p.Gln30Lys
- gnomAD 2-202464820-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.494
- REVEL 0.33
- CADD 23.00
- PolyPhen-2 0.00
- SIFT 0.04
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available