E108Q (p.Glu108Gln) variant of TBX20 (T-box transcription factor TBX20)
E108Q (p.Glu108Gln) in TBX20 (T-box transcription factor TBX20) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes population frequency data and structural context.
E108Q (p.Glu108Gln) variant details
- p.Glu108Gln
- ExAC rs758302449
- gnomAD rs758302449
- Missense
- Variant Prioritization Score for Impact Estimate 0.756
- REVEL 0.73
- CADD 26.70
- PolyPhen-2 0.95
- SIFT 0.02
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available