V4A (p.Val4Ala) variant of CUX1 (Homeobox protein cut-like 1)
V4A (p.Val4Ala) in CUX1 (Homeobox protein cut-like 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
V4A (p.Val4Ala) variant details
- p.Val4Ala
- rs748916298
- gnomAD 7-101816044-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.53
- CADD 19.30
- SIFT 1.00
- Most common in the South Asian population (allele frequency 1.3e-05)
- Structural context available
- CUX1 Homeobox domain domainome 1.0: score -0.612
- Literature evidence available