P87S (p.Pro87Ser) variant of NKX2-5 (Homeobox protein Nkx-2.5)
P87S (p.Pro87Ser) 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 Cardiovascular phenotype; Atrial septal defect 7. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data and structural context.
P87S (p.Pro87Ser) variant details
- p.Pro87Ser
- rs1352813413
- ClinGen CA362163377
- ClinVar RCV002426202
- ClinVar RCV003619799
- Conflicting interpretations
- Cardiovascular phenotype; Atrial septal defect 7
- Missense
- Variant Prioritization Score for Impact Estimate 0.248
- REVEL 0.20
- CADD 17.80
- PolyPhen-2 0.00
- SIFT 0.88
- ClinVar: Conflicting classifications of pathogenicity (Cardiovascular phenotype; Atrial septal defect 7)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the African/African-American population (allele frequency 0.00041)
- Structural context available