A15V (p.Ala15Val) variant of CUX1 (Homeobox protein cut-like 1)
A15V (p.Ala15Val) in CUX1 (Homeobox protein cut-like 1) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data, experimental measurements, and structural context.
A15V (p.Ala15Val) variant details
- p.Ala15Val
- NCI-TCGA Cosmic COSV5290
- cosmic curated COSV52904
- NCI-TCGA Cosmic COSV9947
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.372
- REVEL 0.15
- MetaLR 0.09
- MetaSVM -1.07
- CADD 24.10
- PolyPhen-2 0.28
- SIFT 0.04
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available
- CUX1 Homeobox domain domainome 1.0: score -0.345