S70L (p.Ser70Leu) variant of WWTR1 (Q9GZV5)
S70L (p.Ser70Leu) in WWTR1 (Q9GZV5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data and structural context.
S70L (p.Ser70Leu) variant details
- p.Ser70Leu
- TOPMed rs1713284360
- Missense
- Variant Prioritization Score for Impact Estimate 0.396
- REVEL 0.11
- CADD 29.90
- PolyPhen-2 0.46
- SIFT 0.02
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available