V85A (p.Val85Ala) variant of WWTR1 (Q9GZV5)
V85A (p.Val85Ala) in WWTR1 (Q9GZV5) is a missense change. Clinical records from ClinVar, EBI, 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 0.27 / 1. The record also includes population frequency data and structural context.
V85A (p.Val85Ala) variant details
- p.Val85Ala
- Ensembl rs1713279473
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.272
- REVEL 0.11
- CADD 22.90
- PolyPhen-2 0.14
- SIFT 0.12
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available