D101G (p.Asp101Gly) variant of NKX2-5 (Homeobox protein Nkx-2.5)
D101G (p.Asp101Gly) in NKX2-5 (Homeobox protein Nkx-2.5) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Atrial septal defect 7. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data and structural context.
D101G (p.Asp101Gly) variant details
- p.Asp101Gly
- rs2480079285
- ClinGen CA362163286
- ClinVar RCV003510378
- NCI-TCGA Cosmic COSV6129
- Uncertain significance
- Atrial septal defect 7
- Missense
- Variant Prioritization Score for Impact Estimate 0.385
- REVEL 0.23
- CADD 23.40
- PolyPhen-2 0.00
- SIFT 0.10
- ClinVar: Uncertain significance (Atrial septal defect 7)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available