N33I (p.Asn33Ile) variant of WWTR1 (Q9GZV5)
N33I (p.Asn33Ile) in WWTR1 (Q9GZV5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data, experimental measurements, and structural context.
N33I (p.Asn33Ile) variant details
- p.Asn33Ile
- TOPMed rs1480331695
- gnomAD rs1480331695
- Missense
- Variant Prioritization Score for Impact Estimate 0.4
- REVEL 0.29
- CADD 28.20
- Most common in the Latino/Admixed American population (allele frequency 6.6e-05)
- Structural context available
- WWTR1 WW domain domainome 1.0: score -0.734