V3A (p.Val3Ala) variant of GATA3 (P23771)
V3A (p.Val3Ala) in GATA3 (P23771) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes population frequency data.
V3A (p.Val3Ala) variant details
- p.Val3Ala
- NCI-TCGA TCGA novel
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.694
- REVEL 0.67
- MetaLR 0.90
- MetaSVM 0.94
- CADD 25.60
- PolyPhen-2 0.52
- SIFT 0.07
- ClinVar: Uncertain significance (not provided)
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 3.4e-05)