S10R (p.Ser10Arg) variant of GATA5 (Transcription factor GATA-5)
S10R (p.Ser10Arg) 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 0.54 / 1. The record also includes population frequency data and structural context.
S10R (p.Ser10Arg) variant details
- p.Ser10Arg
- rs782819196
- ClinGen CA409558050
- ClinVar RCV003023359
- ExAC rs782819196
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.54
- REVEL 0.55
- MetaLR 0.91
- MetaSVM 0.91
- CADD 22.80
- PolyPhen-2 0.41
- SIFT 0.01
- ClinVar: Uncertain significance (not provided)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Middle Eastern population (allele frequency 0.0007)
- Structural context available