N162K (p.Asn162Lys) variant of TBX5 (T-box transcription factor TBX5)
N162K (p.Asn162Lys) in TBX5 (T-box transcription factor TBX5) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Aortic valve disease 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes structural context.
N162K (p.Asn162Lys) variant details
- p.Asn162Lys
- rs2136416601
- ClinGen CA386861992
- ClinVar RCV001986375
- Ensembl rs2136416601
- Likely pathogenic
- Aortic valve disease 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.854
- AlphaMissense 1.00
- MetaLR 0.89
- MetaSVM 0.97
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.63
- ClinVar: Likely pathogenic (Aortic valve disease 2)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available