L10M (p.Leu10Met) variant of TBX5 (T-box transcription factor TBX5)
L10M (p.Leu10Met) in TBX5 (T-box transcription factor TBX5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data and structural context.
L10M (p.Leu10Met) variant details
- p.Leu10Met
- cosmic curated COSV59863
- gnomAD rs1406353614
- Missense
- Variant Prioritization Score for Impact Estimate 0.255
- REVEL 0.16
- CADD 20.80
- PolyPhen-2 0.04
- SIFT 0.06
- Most common in the 1KG:MSL population (allele frequency 0.013)
- Structural context available