P49L (p.Pro49Leu) variant of WWTR1 (Q9GZV5)
P49L (p.Pro49Leu) in WWTR1 (Q9GZV5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data and structural context.
P49L (p.Pro49Leu) variant details
- p.Pro49Leu
- gnomAD rs1373324254
- Missense
- Variant Prioritization Score for Impact Estimate 0.681
- REVEL 0.58
- CADD 32.00
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available