A92S (p.Ala92Ser) variant of GATA5 (Transcription factor GATA-5)
A92S (p.Ala92Ser) 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 provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data and structural context.
A92S (p.Ala92Ser) variant details
- p.Ala92Ser
- rs1555897013
- ClinGen CA409557038
- ClinVar RCV003064615
- gnomAD rs1555897013
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.246
- REVEL 0.22
- MetaLR 0.82
- MetaSVM 0.05
- CADD 4.31
- PolyPhen-2 0.10
- SIFT 0.75
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 0.00015)
- Structural context available