F145L (p.Phe145Leu) variant of NKX2-5 (Homeobox protein Nkx-2.5)
F145L (p.Phe145Leu) 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 not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes population frequency data and structural context.
F145L (p.Phe145Leu) variant details
- p.Phe145Leu
- rs758277832
- ClinGen CA132259310
- ClinVar RCV003172153
- Ensembl rs758277832
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.754
- REVEL 0.94
- CADD 26.30
- PolyPhen-2 1.00
- SIFT 0.01
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available