Q52P (p.Gln52Pro) variant of CUX1 (Homeobox protein cut-like 1)
Q52P (p.Gln52Pro) in CUX1 (Homeobox protein cut-like 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, experimental measurements, and structural context.
Q52P (p.Gln52Pro) variant details
- p.Gln52Pro
- Ensembl rs2129333061
- Missense
- Variant Prioritization Score for Impact Estimate 0.34
- REVEL 0.18
- MetaLR 0.09
- MetaSVM -1.09
- CADD 26.20
- SIFT 0.01
- Most common in the HGDP:BEDOUIN population (allele frequency 0.012)
- Structural context available
- CUX1 CUT domain domainome 1.0: score -0.602