P90R (p.Pro90Arg) variant of TBX20 (T-box transcription factor TBX20)
P90R (p.Pro90Arg) in TBX20 (T-box transcription factor TBX20) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data and structural context.
P90R (p.Pro90Arg) variant details
- p.Pro90Arg
- gnomAD rs1194984357
- Missense
- Variant Prioritization Score for Impact Estimate 0.628
- REVEL 0.50
- CADD 27.90
- PolyPhen-2 0.99
- SIFT 0.03
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available