P55L (p.Pro55Leu) variant of CUX1 (Homeobox protein cut-like 1)
P55L (p.Pro55Leu) in CUX1 (Homeobox protein cut-like 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 0.45 / 1. The record also includes population frequency data, experimental measurements, and structural context.
P55L (p.Pro55Leu) variant details
- p.Pro55Leu
- rs1213438024
- NCI-TCGA Cosmic COSV9947
- cosmic curated COSV99473
- gnomAD rs1213438024
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.448
- REVEL 0.26
- MetaLR 0.24
- MetaSVM -0.68
- CADD 25.60
- PolyPhen-2 1.00
- SIFT 0.02
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available
- CUX1 Homeobox domain domainome 1.0: score -0.318