Q30P (p.Gln30Pro) variant of BMPR2 (Q13873)
Q30P (p.Gln30Pro) in BMPR2 (Q13873) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data, published literature, and structural context.
Q30P (p.Gln30Pro) variant details
- p.Gln30Pro
- gnomAD 2-202464821-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.499
- REVEL 0.43
- CADD 23.80
- PolyPhen-2 0.02
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available