Q23P (p.Gln23Pro) variant of SIX1 (Homeobox protein SIX1)
Q23P (p.Gln23Pro) in SIX1 (Homeobox protein SIX1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data, experimental measurements, and structural context.
Q23P (p.Gln23Pro) variant details
- p.Gln23Pro
- ExAC rs781574148
- gnomAD rs781574148
- Missense
- Variant Prioritization Score for Impact Estimate 0.652
- CADD 28.70
- PolyPhen-2 0.51
- SIFT 0.01
- Most common in the HGDP:FRENCH population (allele frequency 0.019)
- Structural context available
- SIX1 Homeobox domain domainome 1.0: score -0.957