P66S (p.Pro66Ser) variant of F11 (Coagulation factor XI)
P66S (p.Pro66Ser) in F11 (Coagulation factor XI) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Inborn genetic diseases; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data, published literature, and structural context.
P66S (p.Pro66Ser) variant details
- p.Pro66Ser
- rs144595035
- ClinGen CA3163574
- ClinVar RCV004385775
- ClinVar RCV004790660
- Conflicting interpretations
- Inborn genetic diseases; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.35
- AlphaMissense 0.06
- MetaLR 0.26
- MetaSVM -0.60
- PolyPhen-2 0.00
- SIFT 0.66
- EVE 0.05
- ClinVar: Conflicting classifications of pathogenicity (Inborn genetic diseases; not provided)
- EBI: Likely benign (in dbSNP:rs5968)
- UniProt: Likely benign (in dbSNP:rs5968)
- Population evidence available
- 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)