M24R (p.Met24Arg) variant of TBX20 (T-box transcription factor TBX20)
M24R (p.Met24Arg) in TBX20 (T-box transcription factor TBX20) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes population frequency data and structural context.
M24R (p.Met24Arg) variant details
- p.Met24Arg
- rs2546999444
- ClinGen CA367265571
- ClinVar RCV003682067
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.735
- REVEL 0.79
- CADD 29.30
- PolyPhen-2 0.60
- SIFT 0.00
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available