D25N (p.Asp25Asn) variant of TBX5 (T-box transcription factor TBX5)
D25N (p.Asp25Asn) in TBX5 (T-box transcription factor TBX5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data and structural context.
D25N (p.Asp25Asn) variant details
- p.Asp25Asn
- cosmic curated COSV59858
- Missense
- Variant Prioritization Score for Impact Estimate 0.478
- REVEL 0.28
- CADD 24.50
- PolyPhen-2 0.08
- SIFT 0.04
- Most common in the Middle Eastern population (allele frequency 0.0007)
- Structural context available