G22R (p.Gly22Arg) variant of GATA4 (Transcription factor GATA-4)
G22R (p.Gly22Arg) in GATA4 (Transcription factor GATA-4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data, published literature, and structural context.
G22R (p.Gly22Arg) variant details
- p.Gly22Arg
- gnomAD 8-11708376-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.682
- REVEL 0.64
- CADD 25.10
- PolyPhen-2 0.97
- SIFT 0.01
- Most common in the HGDP:BURUSHO population (allele frequency 0.042)
- Structural context available
- Literature evidence available