P5R (p.Pro5Arg) variant of NKX2-5 (Homeobox protein Nkx-2.5)
P5R (p.Pro5Arg) 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; Cardiovascular phenotype. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data and structural context.
P5R (p.Pro5Arg) variant details
- p.Pro5Arg
- rs2480080911
- ClinGen CA362163861
- ClinVar RCV003090716
- ClinVar RCV003358081
- Uncertain significance
- Atrial septal defect 7; Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.716
- REVEL 0.68
- CADD 27.00
- PolyPhen-2 0.55
- SIFT 0.00
- ClinVar: Uncertain significance (Atrial septal defect 7; Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:BURUSHO population (allele frequency 0.042)
- Structural context available