A37V (p.Ala37Val) variant of GATA5 (Transcription factor GATA-5)
A37V (p.Ala37Val) 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 0.54 / 1. The record also includes population frequency data and structural context.
A37V (p.Ala37Val) variant details
- p.Ala37Val
- NCI-TCGA TCGA novel
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.544
- REVEL 0.41
- MetaLR 0.86
- MetaSVM 0.55
- CADD 22.90
- PolyPhen-2 0.20
- SIFT 0.01
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the HGDP:BURUSHO population (allele frequency 0.042)
- Structural context available