P9Q (p.Pro9Gln) variant of WWTR1 (Q9GZV5)
P9Q (p.Pro9Gln) in WWTR1 (Q9GZV5) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, experimental measurements, and structural context.
P9Q (p.Pro9Gln) variant details
- p.Pro9Gln
- 1000Genomes rs149985695
- ESP rs149985695
- ExAC rs149985695
- TOPMed rs149985695
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.31
- REVEL 0.09
- CADD 22.90
- PolyPhen-2 0.26
- SIFT 0.25
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- WWTR1 WW domain domainome 1.0: score -0.0347