P29L (p.Pro29Leu) variant of GATA3 (P23771)
P29L (p.Pro29Leu) in GATA3 (P23771) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Inborn genetic diseases; not provided; Hypoparathyroidism, deafness, renal disea. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data and structural context.
P29L (p.Pro29Leu) variant details
- p.Pro29Leu
- ExAC rs758750439
- TOPMed rs758750439
- gnomAD rs758750439
- Conflicting interpretations
- Inborn genetic diseases; not provided; Hypoparathyroidism, deafness, renal disea
- Missense
- Variant Prioritization Score for Impact Estimate 0.675
- REVEL 0.58
- MetaLR 0.82
- MetaSVM 0.77
- CADD 24.50
- PolyPhen-2 0.03
- SIFT 0.02
- ClinVar: Conflicting classifications of pathogenicity (Inborn genetic diseases; not provided; Hypoparathyroidism, deafn)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available