A71P (p.Ala71Pro) variant of NKX2-5 (Homeobox protein Nkx-2.5)
A71P (p.Ala71Pro) in NKX2-5 (Homeobox protein Nkx-2.5) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Atrial septal defect 7; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data and structural context.
A71P (p.Ala71Pro) variant details
- p.Ala71Pro
- rs772542981
- ClinGen CA3563828
- ClinVar RCV003619378
- ClinVar RCV004763754
- Conflicting interpretations
- Atrial septal defect 7; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.171
- REVEL 0.10
- CADD 16.90
- PolyPhen-2 0.01
- SIFT 0.27
- ClinVar: Conflicting classifications of pathogenicity (Atrial septal defect 7; not provided)
- EBI: Likely benign
- UniProt: Likely benign
- Population evidence available
- Structural context available