S19L (p.Ser19Leu) variant of F12 (Coagulation factor XII)
S19L (p.Ser19Leu) in F12 (Coagulation factor XII) is a missense change. Clinical records from ClinVar and UniProt describe it as likely benign in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data and structural context.
S19L (p.Ser19Leu) variant details
- p.Ser19Leu
- rs376689925
- NCI-TCGA Cosmic COSV5369
- 1000Genomes rs376689925
- ExAC rs376689925
- Likely benign
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.136
- REVEL 0.15
- CADD 7.78
- PolyPhen-2 0.00
- SIFT 0.39
- ClinVar: Likely benign (Inborn genetic diseases)
- UniProt: Likely benign
- Most common in the HGDP:NAXI population (allele frequency 0.071)
- Structural context available