A135V (p.Ala135Val) variant of F5 (Coagulation factor V)
A135V (p.Ala135Val) in F5 (Coagulation factor V) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of Congenital factor V deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data and structural context.
A135V (p.Ala135Val) variant details
- p.Ala135Val
- rs2526445505
- ClinGen CA2739275398
- ClinVar RCV003763626
- Likely benign
- Congenital factor V deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.15
- REVEL 0.20
- CADD 0.08
- PolyPhen-2 0.00
- SIFT 1.00
- ClinVar: Likely benign (Congenital factor V deficiency)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 9.9e-07)
- Structural context available