P24L (p.Pro24Leu) variant of GATA3 (P23771)
P24L (p.Pro24Leu) in GATA3 (P23771) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Hypoparathyroidism, deafness, renal disease syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes population frequency data and structural context.
P24L (p.Pro24Leu) variant details
- p.Pro24Leu
- rs1485724723
- ClinGen CA375965099
- ClinVar RCV001337038
- ClinVar RCV001871895
- Uncertain significance
- not provided; Hypoparathyroidism, deafness, renal disease syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.772
- REVEL 0.72
- MetaLR 0.89
- MetaSVM 0.95
- CADD 27.10
- PolyPhen-2 0.47
- SIFT 0.03
- ClinVar: Uncertain significance (not provided; Hypoparathyroidism, deafness, renal disease syndro)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 5.2e-05)
- Structural context available