T2A (p.Thr2Ala) variant of BMPR2 (Q13873)
T2A (p.Thr2Ala) in BMPR2 (Q13873) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data, published literature, and structural context.
T2A (p.Thr2Ala) variant details
- p.Thr2Ala
- gnomAD 2-202377478-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.176
- REVEL 0.23
- CADD 5.73
- PolyPhen-2 0.00
- SIFT 0.18
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available