Q65H (p.Gln65His) variant of CYP27B1 (O15528)
Q65H (p.Gln65His) in CYP27B1 (O15528) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic in the context of in VDDR1A. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes published literature and structural context.
Q65H (p.Gln65His) variant details
- p.Gln65His
- rs868704228
- UniProt VAR 016969
- Ensembl rs868704228
- Pathogenic
- in VDDR1A
- Missense
- Variant Prioritization Score for Impact Estimate 0.411
- ESM-1b 0.37
- AlphaMissense 0.84
- MetaLR 0.30
- MetaSVM -0.57
- PolyPhen-2 0.95
- SIFT 0.00
- EBI: Pathogenic (in VDDR1A)
- UniProt: Pathogenic (in VDDR1A)
- Structural context available
- Cited in: Genetics of vitamin D 1alpha-hydroxylase deficiency in 17 families. (PMID 9837822)
- Cited in: Novel mutations in the 1alpha-hydroxylase (P450c1) gene in three families with pseudovitamin D-deficiency rickets… (PMID 10320521)