Q30H (p.Gln30His) variant of F10 (Coagulation factor X)
Q30H (p.Gln30His) in F10 (Coagulation factor X) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign in the context of not provided; Hereditary factor X deficiency disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data, published literature, and structural context.
Q30H (p.Gln30His) variant details
- p.Gln30His
- rs5961
- ClinGen CA7060350
- ClinVar RCV000368932
- ClinVar RCV000881749
- Benign
- not provided; Hereditary factor X deficiency disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.199
- REVEL 0.30
- CADD 0.00
- PolyPhen-2 0.00
- SIFT 0.28
- ClinVar: Benign (not provided; Hereditary factor X deficiency disease)
- EBI: Benign (in dbSNP:rs5961)
- UniProt: Benign (in dbSNP:rs5961)
- Most common in the HGDP:BANTUKENYA population (allele frequency 0.15)
- Structural context available
- Cited in: Characterization of single-nucleotide polymorphisms in coding regions of human genes. (PMID 10391209)