A70T (p.Ala70Thr) variant of GATA5 (Transcription factor GATA-5)
A70T (p.Ala70Thr) in GATA5 (Transcription factor GATA-5) 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 0.39 / 1. The record also includes population frequency data and structural context.
A70T (p.Ala70Thr) variant details
- p.Ala70Thr
- rs2516447202
- ClinGen CA409557435
- ClinVar RCV004395124
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.394
- REVEL 0.17
- MetaLR 0.82
- MetaSVM 0.14
- CADD 8.93
- PolyPhen-2 0.04
- SIFT 0.09
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 0.00015)
- Structural context available