A103T (p.Ala103Thr) variant of WWTR1 (Q9GZV5)
A103T (p.Ala103Thr) 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 0.16 / 1. The record also includes population frequency data and structural context.
A103T (p.Ala103Thr) variant details
- p.Ala103Thr
- ExAC rs763327005
- TOPMed rs763327005
- gnomAD rs763327005
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.162
- REVEL 0.06
- CADD 12.50
- PolyPhen-2 0.00
- SIFT 0.10
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 4.4e-05)
- Structural context available