A44V (p.Ala44Val) variant of TBX5 (T-box transcription factor TBX5)
A44V (p.Ala44Val) in TBX5 (T-box transcription factor TBX5) 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 0.49 / 1. The record also includes population frequency data and structural context.
A44V (p.Ala44Val) variant details
- p.Ala44Val
- rs1255070392
- NCI-TCGA Cosmic COSV1000
- cosmic curated COSV10009
- gnomAD rs1255070392
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.49
- REVEL 0.31
- CADD 23.80
- PolyPhen-2 0.04
- SIFT 0.11
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the 1KG:MXL population (allele frequency 0.0081)
- Structural context available