R38C (p.Arg38Cys) variant of GATA5 (Transcription factor GATA-5)
R38C (p.Arg38Cys) in GATA5 (Transcription factor GATA-5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes population frequency data and structural context.
R38C (p.Arg38Cys) variant details
- p.Arg38Cys
- gnomAD rs1555897065
- Missense
- Variant Prioritization Score for Impact Estimate 0.779
- REVEL 0.86
- MetaLR 0.98
- MetaSVM 1.07
- CADD 26.30
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the HGDP:FRENCH population (allele frequency 0.019)
- Structural context available