P51Q (p.Pro51Gln) variant of GATA5 (Transcription factor GATA-5)
P51Q (p.Pro51Gln) in GATA5 (Transcription factor GATA-5) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data and structural context.
P51Q (p.Pro51Gln) variant details
- p.Pro51Gln
- NCI-TCGA TCGA novel
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.52
- REVEL 0.43
- MetaLR 0.88
- MetaSVM 0.46
- CADD 23.40
- PolyPhen-2 0.62
- SIFT 0.03
- UniProt: Variant assessed as somatic; moderate impact.
- Population evidence available
- Structural context available