P127L (p.Pro127Leu) variant of WWTR1 (Q9GZV5)
P127L (p.Pro127Leu) in WWTR1 (Q9GZV5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes population frequency data and structural context.
P127L (p.Pro127Leu) variant details
- p.Pro127Leu
- ExAC rs770347565
- gnomAD rs770347565
- Missense
- Variant Prioritization Score for Impact Estimate 0.874
- REVEL 0.92
- CADD 32.00
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the South Asian population (allele frequency 1.3e-05)
- Structural context available