L66F (p.Leu66Phe) variant of NKX2-5 (Homeobox protein Nkx-2.5)
L66F (p.Leu66Phe) 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 0.44 / 1. The record also includes population frequency data and structural context.
L66F (p.Leu66Phe) variant details
- p.Leu66Phe
- rs1202883517
- ClinGen CA362163500
- ClinVar RCV003131808
- 1000Genomes rs1202883517
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.441
- REVEL 0.28
- CADD 24.10
- PolyPhen-2 0.92
- SIFT 0.14
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 0.00041)
- Structural context available