P42S (p.Pro42Ser) variant of TBX5 (T-box transcription factor TBX5)
P42S (p.Pro42Ser) in TBX5 (T-box transcription factor TBX5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data and structural context.
P42S (p.Pro42Ser) variant details
- p.Pro42Ser
- gnomAD rs1205091445
- Missense
- Variant Prioritization Score for Impact Estimate 0.558
- REVEL 0.39
- CADD 26.90
- PolyPhen-2 0.99
- SIFT 0.02
- Most common in the African/African-American population (allele frequency 0.00012)
- Structural context available