Y91H (p.Tyr91His) variant of F5 (Coagulation factor V)
Y91H (p.Tyr91His) in F5 (Coagulation factor V) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Congenital factor V deficiency; Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data, published literature, and structural context.
Y91H (p.Tyr91His) variant details
- p.Tyr91His
- rs367901835
- ClinGen CA1234667
- cosmic curated COSV63125
- ClinVar RCV003349960
- Uncertain significance
- Congenital factor V deficiency; Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.637
- REVEL 0.64
- CADD 24.40
- PolyPhen-2 0.98
- SIFT 0.16
- ClinVar: Uncertain significance (Congenital factor V deficiency; Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9.3e-07)
- Structural context available
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)
- Cited in: Including the initial newborn screening bloodspot collection device serial number on birth certificates: basis and… (PMID 23037933)