P100A (p.Pro100Ala) variant of NKX2-5 (Homeobox protein Nkx-2.5)
P100A (p.Pro100Ala) in NKX2-5 (Homeobox protein Nkx-2.5) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of Cardiovascular phenotype; not specified; Atrial septal defect 7. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data and structural context.
P100A (p.Pro100Ala) variant details
- p.Pro100Ala
- rs550046293
- ClinGen CA3563812
- ClinVar RCV000226256
- ExAC rs550046293
- Likely benign
- Cardiovascular phenotype; not specified; Atrial septal defect 7
- Missense
- Variant Prioritization Score for Impact Estimate 0.227
- REVEL 0.14
- CADD 16.00
- PolyPhen-2 0.01
- SIFT 1.00
- ClinVar: Likely benign (Cardiovascular phenotype; not specified; Atrial septal defect 7)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the HGDP:BURUSHO population (allele frequency 0.042)
- Structural context available