S104G (p.Ser104Gly) variant of GATA5 (Transcription factor GATA-5)
S104G (p.Ser104Gly) in GATA5 (Transcription factor GATA-5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data and structural context.
S104G (p.Ser104Gly) variant details
- p.Ser104Gly
- Ensembl rs933702892
- Missense
- Variant Prioritization Score for Impact Estimate 0.365
- REVEL 0.32
- MetaLR 0.79
- MetaSVM 0.20
- CADD 11.70
- PolyPhen-2 0.00
- SIFT 0.50
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available