S44P (p.Ser44Pro) variant of GATA5 (Transcription factor GATA-5)
S44P (p.Ser44Pro) in GATA5 (Transcription factor GATA-5) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not specified; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data and structural context.
S44P (p.Ser44Pro) variant details
- p.Ser44Pro
- rs781869793
- ClinGen CA9946330
- ClinVar RCV001574340
- ClinVar RCV005572620
- Conflicting interpretations
- not specified; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.336
- REVEL 0.30
- MetaLR 0.61
- MetaSVM 0.12
- CADD 14.30
- PolyPhen-2 0.00
- SIFT 1.00
- ClinVar: Conflicting classifications of pathogenicity (not specified; not provided)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available