N46T (p.Asn46Thr) variant of BMPR1A (P36894)
N46T (p.Asn46Thr) in BMPR1A (P36894) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data, published literature, and structural context.
N46T (p.Asn46Thr) variant details
- p.Asn46Thr
- gnomAD 10-86890131-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.253
- REVEL 0.24
- CADD 18.10
- PolyPhen-2 0.01
- SIFT 0.07
- Most common in the Non-Finnish European population (allele frequency 7.2e-06)
- Structural context available
- Literature evidence available