V142A (p.Val142Ala) variant of F5 (Coagulation factor V)
V142A (p.Val142Ala) in F5 (Coagulation factor V) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Congenital factor V deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data and structural context.
V142A (p.Val142Ala) variant details
- p.Val142Ala
- rs552620077
- ClinGen CA32396414
- ClinVar RCV003763614
- TOPMed rs552620077
- Uncertain significance
- Congenital factor V deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.679
- REVEL 0.72
- CADD 24.30
- PolyPhen-2 0.86
- SIFT 0.00
- ClinVar: Uncertain significance (Congenital factor V deficiency)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available