Q22H (p.Gln22His) variant of SIX1 (Homeobox protein SIX1)
Q22H (p.Gln22His) in SIX1 (Homeobox protein SIX1) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data, experimental measurements, and structural context.
Q22H (p.Gln22His) variant details
- p.Gln22His
- NCI-TCGA Cosmic COSV5595
- NCI-TCGA Cosmic COSV9990
- cosmic curated COSV99903
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.429
- CADD 23.00
- PolyPhen-2 0.06
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 8.8e-05)
- Structural context available
- SIX1 Homeobox domain domainome 1.0: score 0.0917