S4T (p.Ser4Thr) variant of GATA5 (Transcription factor GATA-5)
S4T (p.Ser4Thr) 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; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data and structural context.
S4T (p.Ser4Thr) variant details
- p.Ser4Thr
- rs903053351
- ClinGen CA317288681
- ClinVar RCV002040410
- ClinVar RCV005565118
- Uncertain significance
- not specified; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.576
- REVEL 0.49
- MetaLR 0.91
- MetaSVM 0.74
- CADD 23.10
- PolyPhen-2 0.87
- SIFT 0.40
- ClinVar: Uncertain significance (not specified; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available