A103E (p.Ala103Glu) variant of WWTR1 (Q9GZV5)
A103E (p.Ala103Glu) in WWTR1 (Q9GZV5) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data and structural context.
A103E (p.Ala103Glu) variant details
- p.Ala103Glu
- 1000Genomes rs769836377
- ExAC rs769836377
- TOPMed rs769836377
- gnomAD rs769836377
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.291
- REVEL 0.06
- CADD 22.70
- PolyPhen-2 0.03
- SIFT 0.02
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 4.4e-05)
- Structural context available