R35W (p.Arg35Trp) variant of F2 (Prothrombin)
R35W (p.Arg35Trp) in F2 (Prothrombin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data, published literature, and structural context.
R35W (p.Arg35Trp) variant details
- p.Arg35Trp
- rs144785536
- ClinGen CA5966808
- cosmic curated COSV10031
- NCI-TCGA Cosmic COSV6131
- Uncertain significance
- Inborn genetic diseases; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.423
- REVEL 0.31
- CADD 16.40
- PolyPhen-2 0.09
- SIFT 0.11
- ClinVar: Uncertain significance (Inborn genetic diseases; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)