P3L (p.Pro3Leu) variant of WWTR1 (Q9GZV5)
P3L (p.Pro3Leu) in WWTR1 (Q9GZV5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data, experimental measurements, and structural context.
P3L (p.Pro3Leu) variant details
- p.Pro3Leu
- TOPMed rs1257077313
- gnomAD rs1257077313
- Missense
- Variant Prioritization Score for Impact Estimate 0.421
- REVEL 0.18
- CADD 26.30
- PolyPhen-2 0.43
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- WWTR1 WW domain domainome 1.0: score -0.472