A135E (p.Ala135Glu) variant of F5 (Coagulation factor V)
A135E (p.Ala135Glu) in F5 (Coagulation factor V) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data and structural context.
A135E (p.Ala135Glu) variant details
- p.Ala135Glu
- rs200765676
- NCI-TCGA Cosmic COSV6312
- 1000Genomes rs200765676
- ExAC rs200765676
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.158
- REVEL 0.23
- CADD 0.55
- PolyPhen-2 0.00
- SIFT 0.25
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the HGDP:MBUTI population (allele frequency 0.083)
- Structural context available