G103S (p.Gly103Ser) variant of GATA5 (Transcription factor GATA-5)
G103S (p.Gly103Ser) in GATA5 (Transcription factor GATA-5) is a missense change. Clinical records from ClinVar 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.
G103S (p.Gly103Ser) variant details
- p.Gly103Ser
- TOPMed rs1256378681
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.251
- REVEL 0.19
- MetaLR 0.65
- MetaSVM -0.03
- CADD 12.00
- PolyPhen-2 0.01
- SIFT 0.85
- ClinVar: Uncertain significance (not provided)
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available