D111N (p.Asp111Asn) variant of TBX20 (T-box transcription factor TBX20)
D111N (p.Asp111Asn) 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 0.61 / 1. The record also includes structural context.
D111N (p.Asp111Asn) variant details
- p.Asp111Asn
- rs2128716129
- ClinGen CA367264991
- ClinVar RCV003856555
- Ensembl rs2128716129
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.608
- AlphaMissense 0.28
- MetaLR 0.73
- MetaSVM 0.48
- PolyPhen-2 0.66
- SIFT 0.01
- EVE 0.30
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available