A25G (p.Ala25Gly) variant of BMPR2 (Q13873)
A25G (p.Ala25Gly) in BMPR2 (Q13873) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data, published literature, and structural context.
A25G (p.Ala25Gly) variant details
- p.Ala25Gly
- gnomAD 2-202377548-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.383
- REVEL 0.20
- CADD 23.20
- PolyPhen-2 0.00
- SIFT 0.10
- Population evidence available
- Structural context available
- Literature evidence available