A14V (p.Ala14Val) variant of GATA5 (Transcription factor GATA-5)
A14V (p.Ala14Val) in GATA5 (Transcription factor GATA-5) is a missense change. Clinical records from ClinVar, EBI, 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 0.51 / 1. The record also includes population frequency data and structural context.
A14V (p.Ala14Val) variant details
- p.Ala14Val
- rs1232804152
- ClinGen CA409557997
- ClinVar RCV002999605
- TOPMed rs1232804152
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.511
- REVEL 0.43
- MetaLR 0.88
- MetaSVM 0.46
- CADD 18.80
- PolyPhen-2 0.35
- SIFT 0.09
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 0.00012)
- Structural context available