R61S (p.Arg61Ser) variant of TBX5 (T-box transcription factor TBX5)
R61S (p.Arg61Ser) in TBX5 (T-box transcription factor TBX5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data and structural context.
R61S (p.Arg61Ser) variant details
- p.Arg61Ser
- ExAC rs777853147
- gnomAD rs777853147
- Missense
- Variant Prioritization Score for Impact Estimate 0.433
- REVEL 0.59
- CADD 21.50
- PolyPhen-2 0.32
- SIFT 0.02
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available