P76S (p.Pro76Ser) variant of NKX2-1 (Homeobox protein Nkx-2.1)
P76S (p.Pro76Ser) in NKX2-1 (Homeobox protein Nkx-2.1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data and structural context.
P76S (p.Pro76Ser) variant details
- p.Pro76Ser
- rs746531863
- ClinGen CA7158547
- ClinVar RCV001777103
- ExAC rs746531863
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.329
- AlphaMissense 0.13
- MetaLR 0.20
- MetaSVM -0.85
- PolyPhen-2 0.00
- SIFT 0.52
- EVE 0.07
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available