P14S (p.Pro14Ser) variant of GATA4 (Transcription factor GATA-4)
P14S (p.Pro14Ser) in GATA4 (Transcription factor GATA-4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data and structural context.
P14S (p.Pro14Ser) variant details
- p.Pro14Ser
- gnomAD rs1291319592
- Missense
- Variant Prioritization Score for Impact Estimate 0.445
- REVEL 0.32
- MetaLR 0.78
- MetaSVM 0.20
- CADD 12.80
- PolyPhen-2 0.11
- SIFT 0.62
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available