P82T (p.Pro82Thr) variant of GATA5 (Transcription factor GATA-5)
P82T (p.Pro82Thr) in GATA5 (Transcription factor GATA-5) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data and structural context.
P82T (p.Pro82Thr) variant details
- p.Pro82Thr
- TOPMed rs1396325756
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.399
- REVEL 0.38
- MetaLR 0.77
- MetaSVM 0.16
- CADD 22.80
- PolyPhen-2 0.11
- SIFT 0.11
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available