A5V (p.Ala5Val) variant of CUX1 (Homeobox protein cut-like 1)
A5V (p.Ala5Val) in CUX1 (Homeobox protein cut-like 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data, experimental measurements, and structural context.
A5V (p.Ala5Val) variant details
- p.Ala5Val
- TOPMed rs1792016659
- Missense
- Variant Prioritization Score for Impact Estimate 0.251
- REVEL 0.13
- MetaLR 0.08
- MetaSVM -1.06
- CADD 17.60
- PolyPhen-2 0.03
- SIFT 0.31
- Most common in the Non-Finnish European population (allele frequency 1.4e-05)
- Structural context available
- CUX1 CUT domain domainome 1.0: score -0.561