N33D (p.Asn33Asp) variant of WWTR1 (Q9GZV5)
N33D (p.Asn33Asp) in WWTR1 (Q9GZV5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data, experimental measurements, and structural context.
N33D (p.Asn33Asp) variant details
- p.Asn33Asp
- TOPMed rs1268544546
- gnomAD rs1268544546
- Missense
- Variant Prioritization Score for Impact Estimate 0.258
- REVEL 0.11
- CADD 24.00
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available
- WWTR1 WW domain domainome 1.0: score -0.734