P5S (p.Pro5Ser) variant of NKX2-5 (Homeobox protein Nkx-2.5)
P5S (p.Pro5Ser) 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 Hypothyroidism, congenital, nongoitrous, 5; Ventricular septal defect 3; Hypopla. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data and structural context.
P5S (p.Pro5Ser) variant details
- p.Pro5Ser
- rs769233111
- ClinGen CA3563864
- ClinVar RCV000702042
- ClinVar RCV002388316
- Uncertain significance
- Hypothyroidism, congenital, nongoitrous, 5; Ventricular septal defect 3; Hypopla
- Missense
- Variant Prioritization Score for Impact Estimate 0.55
- REVEL 0.54
- CADD 23.10
- PolyPhen-2 0.25
- SIFT 0.06
- ClinVar: Uncertain significance (Hypothyroidism, congenital, nongoitrous, 5; Ventricular septal d)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available