P29R (p.Pro29Arg) variant of GATA3 (P23771)
P29R (p.Pro29Arg) in GATA3 (P23771) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes population frequency data and structural context.
P29R (p.Pro29Arg) variant details
- p.Pro29Arg
- ExAC rs758750439
- TOPMed rs758750439
- gnomAD rs758750439
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.751
- REVEL 0.67
- MetaLR 0.92
- MetaSVM 1.02
- CADD 27.30
- PolyPhen-2 0.80
- SIFT 0.01
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available