P94S (p.Pro94Ser) variant of NKX2-5 (Homeobox protein Nkx-2.5)
P94S (p.Pro94Ser) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data and structural context.
P94S (p.Pro94Ser) variant details
- p.Pro94Ser
- rs1009994744
- ClinGen CA132260347
- ClinVar RCV000549035
- ClinVar RCV004730979
- Uncertain significance
- Atrial septal defect 7
- Missense
- Variant Prioritization Score for Impact Estimate 0.424
- AlphaMissense 0.09
- MetaLR 0.53
- MetaSVM -0.65
- PolyPhen-2 0.00
- SIFT 0.43
- EVE 0.10
- ClinVar: Uncertain significance (Atrial septal defect 7)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available