T43P (p.Thr43Pro) variant of F12 (Coagulation factor XII)
T43P (p.Thr43Pro) in F12 (Coagulation factor XII) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data and structural context.
T43P (p.Thr43Pro) variant details
- p.Thr43Pro
- Ensembl rs1581659233
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.443
- REVEL 0.33
- CADD 18.10
- PolyPhen-2 0.19
- SIFT 0.05
- ClinVar: Uncertain significance (not provided)
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 0.00021)
- Structural context available