L116V (p.Leu116Val) variant of TBX20 (T-box transcription factor TBX20)
L116V (p.Leu116Val) in TBX20 (T-box transcription factor TBX20) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data and structural context.
L116V (p.Leu116Val) variant details
- p.Leu116Val
- TOPMed rs1314182168
- gnomAD rs1314182168
- Missense
- Variant Prioritization Score for Impact Estimate 0.579
- REVEL 0.68
- CADD 27.50
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the 1KG:MXL population (allele frequency 0.0081)
- Structural context available