A38S (p.Ala38Ser) variant of F5 (Coagulation factor V)
A38S (p.Ala38Ser) 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 0.73 / 1. The record also includes population frequency data and structural context.
A38S (p.Ala38Ser) variant details
- p.Ala38Ser
- rs184663825
- ClinGen CA1234736
- ClinVar RCV003763625
- 1000Genomes rs184663825
- Likely benign
- Congenital factor V deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.726
- REVEL 0.70
- CADD 24.50
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely benign (Congenital factor V deficiency)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the 1KG:GIH population (allele frequency 0.0053)
- Structural context available