S11I (p.Ser11Ile) variant of F10 (Coagulation factor X)
S11I (p.Ser11Ile) in F10 (Coagulation factor X) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data, published literature, and structural context.
S11I (p.Ser11Ile) variant details
- p.Ser11Ile
- rs375632041
- ClinGen CA7060315
- ClinVar RCV004385768
- ESP rs375632041
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.372
- REVEL 0.23
- CADD 8.28
- PolyPhen-2 0.03
- SIFT 0.40
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 0.00022)
- 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)