T57T (p.Thr57Thr) variant of BMPR2 (Q13873)
T57T (p.Thr57Thr) in BMPR2 (Q13873) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data, published literature, and structural context.
T57T (p.Thr57Thr) variant details
- p.Thr57Thr
- rs1395349205
- gnomAD 2-202464903-A-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.154
- CADD 10.30
- Most common in the Ashkenazi Jewish population (allele frequency 0.00019)
- Structural context available
- Literature evidence available