R11I (p.Arg11Ile) variant of CUX1 (Homeobox protein cut-like 1)
R11I (p.Arg11Ile) in CUX1 (Homeobox protein cut-like 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
R11I (p.Arg11Ile) variant details
- p.Arg11Ile
- gnomAD 7-101916116-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.426
- REVEL 0.27
- MetaLR 0.06
- MetaSVM -1.09
- CADD 24.90
- PolyPhen-2 0.03
- SIFT 0.00
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- CUX1 Homeobox domain domainome 1.0: score -0.379
- Literature evidence available