V39I (p.Val39Ile) variant of F12 (Coagulation factor XII)
V39I (p.Val39Ile) 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 not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data and structural context.
V39I (p.Val39Ile) variant details
- p.Val39Ile
- rs141342777
- ClinGen CA3581623
- ClinVar RCV003729515
- ClinVar RCV005934819
- Conflicting interpretations
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.4
- REVEL 0.32
- CADD 32.00
- PolyPhen-2 0.43
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:ASW population (allele frequency 0.059)
- Structural context available