P35T (p.Pro35Thr) variant of CDX2 (Homeobox protein CDX-2)
P35T (p.Pro35Thr) in CDX2 (Homeobox protein CDX-2) is a missense change. Clinical records from ClinVar, EBI, 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 0.46 / 1. The record also includes population frequency data.
P35T (p.Pro35Thr) variant details
- p.Pro35Thr
- rs148740542
- ClinGen CA6927991
- ClinVar RCV004199991
- 1000Genomes rs148740542
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.461
- REVEL 0.28
- MetaLR 0.33
- MetaSVM -0.22
- CADD 27.20
- PolyPhen-2 0.98
- SIFT 0.06
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:YORUBA population (allele frequency 0.024)