L7P (p.Leu7Pro) variant of CDX2 (Homeobox protein CDX-2)
L7P (p.Leu7Pro) in CDX2 (Homeobox protein CDX-2) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes population frequency data.
L7P (p.Leu7Pro) variant details
- p.Leu7Pro
- gnomAD rs1456435972
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.8
- REVEL 0.92
- MetaLR 0.89
- MetaSVM 0.98
- CADD 32.00
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Most common in the HGDP:XIBO population (allele frequency 0.056)