T17N (p.Thr17Asn) variant of BMPR2 (Q13873)
T17N (p.Thr17Asn) in BMPR2 (Q13873) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data, published literature, and structural context.
T17N (p.Thr17Asn) variant details
- p.Thr17Asn
- gnomAD 2-202377524-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.357
- REVEL 0.29
- CADD 20.20
- PolyPhen-2 0.02
- SIFT 0.55
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available