M36V (p.Met36Val) variant of GATA3 (P23771)
M36V (p.Met36Val) in GATA3 (P23771) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data.
M36V (p.Met36Val) variant details
- p.Met36Val
- gnomAD rs939494825
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.525
- REVEL 0.49
- MetaLR 0.79
- MetaSVM 0.43
- CADD 22.90
- PolyPhen-2 0.03
- SIFT 0.12
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)