I17N (p.Ile17Asn) variant of BMPR1A (P36894)
I17N (p.Ile17Asn) in BMPR1A (P36894) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data, published literature, and structural context.
I17N (p.Ile17Asn) variant details
- p.Ile17Asn
- gnomAD 10-86876068-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.506
- REVEL 0.45
- CADD 22.40
- PolyPhen-2 0.00
- SIFT 0.11
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Literature evidence available