A47V (p.Ala47Val) variant of SERPINE1 (P05121)
A47V (p.Ala47Val) in SERPINE1 (P05121) 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 0.34 / 1. The record also includes population frequency data and structural context.
A47V (p.Ala47Val) variant details
- p.Ala47Val
- rs772841880
- NCI-TCGA Cosmic COSV5617
- ExAC rs772841880
- TOPMed rs772841880
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.345
- REVEL 0.13
- CADD 2.21
- PolyPhen-2 0.00
- SIFT 1.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Finnish in Finland (FIN) population (allele frequency 9.4e-05)
- Structural context available