Q13K (p.Gln13Lys) variant of SIX1 (Homeobox protein SIX1)
Q13K (p.Gln13Lys) in SIX1 (Homeobox protein SIX1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes population frequency data, experimental measurements, and structural context.
Q13K (p.Gln13Lys) variant details
- p.Gln13Lys
- cosmic curated COSV55961
- gnomAD rs1480942237
- Missense
- Variant Prioritization Score for Impact Estimate 0.821
- CADD 31.00
- PolyPhen-2 0.94
- SIFT 0.00
- Population evidence available
- Structural context available
- SIX1 Homeobox domain domainome 1.0: score -0.627