D18G (p.Asp18Gly) variant of GATA5 (Transcription factor GATA-5)
D18G (p.Asp18Gly) in GATA5 (Transcription factor GATA-5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data and structural context.
D18G (p.Asp18Gly) variant details
- p.Asp18Gly
- Ensembl rs894458923
- Missense
- Variant Prioritization Score for Impact Estimate 0.507
- REVEL 0.47
- MetaLR 0.84
- MetaSVM 0.38
- CADD 21.00
- PolyPhen-2 0.06
- SIFT 0.35
- Most common in the African/African-American population (allele frequency 0.00031)
- Structural context available