H73P (p.His73Pro) variant of SIX1 (Homeobox protein SIX1)
H73P (p.His73Pro) in SIX1 (Homeobox protein SIX1) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic in the context of in BOS3. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data, published literature, and structural context.
H73P (p.His73Pro) variant details
- p.His73Pro
- UniProt VAR 064949
- Pathogenic
- in BOS3
- Missense
- Variant Prioritization Score for Impact Estimate 0.619
- CADD 25.60
- PolyPhen-2 0.31
- SIFT 0.00
- EBI: Pathogenic (in BOS3)
- UniProt: Pathogenic (in BOS3)
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available
- Cited in: SIX1 mutation screening in 247 branchio-oto-renal syndrome families: a recurrent missense mutation associated with BOR. (PMID 18330911)
- Cited in: SIX1 mutations cause branchio-oto-renal syndrome by disruption of EYA1-SIX1-DNA complexes. (PMID 15141091)