A15S (p.Ala15Ser) variant of GATA5 (Transcription factor GATA-5)
A15S (p.Ala15Ser) 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 0.24 / 1. The record also includes population frequency data and structural context.
A15S (p.Ala15Ser) variant details
- p.Ala15Ser
- rs1303251290
- ClinGen CA409557994
- ClinVar RCV002046133
- ClinVar RCV004631937
- Uncertain significance
- not specified; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.237
- REVEL 0.18
- MetaLR 0.82
- MetaSVM 0.29
- CADD 7.95
- PolyPhen-2 0.14
- SIFT 0.43
- ClinVar: Uncertain significance (not specified; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available