A25S (p.Ala25Ser) variant of GATA5 (Transcription factor GATA-5)
A25S (p.Ala25Ser) 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 0.30 / 1. The record also includes population frequency data and structural context.
A25S (p.Ala25Ser) variant details
- p.Ala25Ser
- rs1989835436
- ClinGen CA409557933
- ClinVar RCV001966306
- TOPMed rs1989835436
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.297
- REVEL 0.22
- MetaLR 0.53
- MetaSVM -0.09
- CADD 8.91
- PolyPhen-2 0.02
- SIFT 1.00
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00019)
- Structural context available