A85V (p.Ala85Val) variant of GATA5 (Transcription factor GATA-5)
A85V (p.Ala85Val) in GATA5 (Transcription factor GATA-5) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data and structural context.
A85V (p.Ala85Val) variant details
- p.Ala85Val
- NCI-TCGA TCGA novel
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.332
- REVEL 0.21
- MetaLR 0.79
- MetaSVM 0.12
- CADD 10.50
- PolyPhen-2 0.01
- SIFT 0.17
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the 1KG:MXL population (allele frequency 0.0081)
- Structural context available