A6P (p.Ala6Pro) variant of WWTR1 (Q9GZV5)
A6P (p.Ala6Pro) in WWTR1 (Q9GZV5) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data, experimental measurements, and structural context.
A6P (p.Ala6Pro) variant details
- p.Ala6Pro
- rs1380311710
- ClinGen CA354929038
- ClinVar RCV003437968
- TOPMed rs1380311710
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.361
- REVEL 0.10
- CADD 23.80
- PolyPhen-2 0.00
- SIFT 0.04
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- WWTR1 WW domain domainome 1.0: score -0.189