P26A (p.Pro26Ala) variant of GATA5 (Transcription factor GATA-5)
P26A (p.Pro26Ala) in GATA5 (Transcription factor GATA-5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data and structural context.
P26A (p.Pro26Ala) variant details
- p.Pro26Ala
- TOPMed rs1399822264
- gnomAD rs1399822264
- Missense
- Variant Prioritization Score for Impact Estimate 0.387
- REVEL 0.14
- MetaLR 0.65
- MetaSVM -0.23
- CADD 10.70
- PolyPhen-2 0.05
- SIFT 0.41
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available