P90L (p.Pro90Leu) variant of TBX20 (T-box transcription factor TBX20)
P90L (p.Pro90Leu) in TBX20 (T-box transcription factor TBX20) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data and structural context.
P90L (p.Pro90Leu) variant details
- p.Pro90Leu
- gnomAD rs1194984357
- Missense
- Variant Prioritization Score for Impact Estimate 0.645
- REVEL 0.53
- CADD 28.90
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 0.00031)
- Structural context available