P12L (p.Pro12Leu) variant of WWTR1 (Q9GZV5)
P12L (p.Pro12Leu) in WWTR1 (Q9GZV5) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data, experimental measurements, and structural context.
P12L (p.Pro12Leu) variant details
- p.Pro12Leu
- rs1330547066
- TOPMed rs1330547066
- gnomAD rs1330547066
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.429
- REVEL 0.21
- CADD 25.60
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available
- WWTR1 WW domain domainome 1.0: score -0.61