A96V (p.Ala96Val) variant of NKX2-5 (Homeobox protein Nkx-2.5)
A96V (p.Ala96Val) 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 0.26 / 1. The record also includes population frequency data and structural context.
A96V (p.Ala96Val) variant details
- p.Ala96Val
- rs760088847
- ClinGen CA3563813
- ClinVar RCV000798171
- ExAC rs760088847
- Uncertain significance
- Atrial septal defect 7
- Missense
- Variant Prioritization Score for Impact Estimate 0.256
- REVEL 0.16
- CADD 22.70
- PolyPhen-2 0.00
- SIFT 0.20
- ClinVar: Uncertain significance (Atrial septal defect 7)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:MXL population (allele frequency 0.0081)
- Structural context available