R13G (p.Arg13Gly) variant of GATA6 (Transcription factor GATA-6)
R13G (p.Arg13Gly) in GATA6 (Transcription factor GATA-6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data, published literature, and structural context.
R13G (p.Arg13Gly) variant details
- p.Arg13Gly
- gnomAD 18-22171181-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.557
- REVEL 0.54
- CADD 24.20
- PolyPhen-2 0.17
- SIFT 0.01
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available
- Literature evidence available