L140V (p.Leu140Val) variant of F12 (Coagulation factor XII)
L140V (p.Leu140Val) in F12 (Coagulation factor XII) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Factor XII deficiency disease; Hereditary angioedema type 3; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data and structural context.
L140V (p.Leu140Val) variant details
- p.Leu140Val
- rs35515200
- ClinGen CA3581488
- ClinVar RCV000322122
- ClinVar RCV000355853
- Conflicting interpretations
- Factor XII deficiency disease; Hereditary angioedema type 3; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.211
- REVEL 0.10
- CADD 17.80
- PolyPhen-2 0.43
- SIFT 0.06
- ClinVar: Conflicting classifications of pathogenicity (Factor XII deficiency disease; Hereditary angioedema type 3; not)
- EBI: Benign
- UniProt: Benign
- Most common in the HGDP:BALOCHI population (allele frequency 0.043)
- Structural context available