T149I (p.Thr149Ile) variant of F5 (Coagulation factor V)
T149I (p.Thr149Ile) in F5 (Coagulation factor V) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data and structural context.
T149I (p.Thr149Ile) variant details
- p.Thr149Ile
- rs763354263
- NCI-TCGA Cosmic COSV6312
- cosmic curated COSV63124
- ExAC rs763354263
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.492
- REVEL 0.43
- CADD 18.40
- PolyPhen-2 0.11
- SIFT 0.05
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 1.6e-05)
- Structural context available