S47T (p.Ser47Thr) variant of GATA5 (Transcription factor GATA-5)
S47T (p.Ser47Thr) in GATA5 (Transcription factor GATA-5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data and structural context.
S47T (p.Ser47Thr) variant details
- p.Ser47Thr
- Ensembl rs1601520769
- Missense
- Variant Prioritization Score for Impact Estimate 0.386
- REVEL 0.34
- MetaLR 0.80
- MetaSVM 0.12
- CADD 16.80
- PolyPhen-2 0.00
- SIFT 0.49
- Most common in the Non-Finnish European population (allele frequency 8.8e-05)
- Structural context available