A42P (p.Ala42Pro) variant of NKX2-5 (Homeobox protein Nkx-2.5)
A42P (p.Ala42Pro) 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; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data and structural context.
A42P (p.Ala42Pro) variant details
- p.Ala42Pro
- rs113818864
- ClinGen CA302112
- ClinVar RCV000470357
- ClinVar RCV001573768
- Likely benign
- Cardiovascular phenotype; not specified; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.562
- REVEL 0.53
- CADD 21.20
- PolyPhen-2 0.01
- SIFT 0.32
- ClinVar: Likely benign (Cardiovascular phenotype; not specified; not provided)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 8.8e-05)
- Structural context available