T17A (p.Thr17Ala) variant of BMPR2 (Q13873)
T17A (p.Thr17Ala) in BMPR2 (Q13873) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data and structural context.
T17A (p.Thr17Ala) variant details
- p.Thr17Ala
- ExAC rs766753997
- gnomAD rs766753997
- Missense
- Variant Prioritization Score for Impact Estimate 0.231
- REVEL 0.18
- CADD 16.60
- PolyPhen-2 0.00
- SIFT 1.00
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available