R142P (p.Arg142Pro) variant of F12 (Coagulation factor XII)
R142P (p.Arg142Pro) in F12 (Coagulation factor XII) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic in the context of in FA12D. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data, published literature, and structural context.
R142P (p.Arg142Pro) variant details
- p.Arg142Pro
- UniProt VAR 031500
- Pathogenic
- in FA12D
- Missense
- Variant Prioritization Score for Impact Estimate 0.228
- REVEL 0.26
- CADD 16.40
- PolyPhen-2 0.01
- SIFT 0.10
- EBI: Pathogenic (in FA12D)
- UniProt: Pathogenic (in FA12D)
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available
- Cited in: Identification and characterization of two novel mutations (Q421 K and R123P) in congenital factor XII deficiency. (PMID 11776307)
- Cited in: Factor XII Tenri, a novel cross-reacting material negative factor XII deficiency, occurs through a proteasome-mediated… (PMID 10361128)