P11R (p.Pro11Arg) variant of GATA6 (Transcription factor GATA-6)
P11R (p.Pro11Arg) in GATA6 (Transcription factor GATA-6) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data and structural context.
P11R (p.Pro11Arg) variant details
- p.Pro11Arg
- TOPMed rs1598733637
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.527
- REVEL 0.35
- AlphaMissense 0.14
- MetaLR 0.76
- MetaSVM 0.28
- CADD 23.50
- PolyPhen-2 0.76
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available