A49S (p.Ala49Ser) variant of SERPINE1 (P05121)
A49S (p.Ala49Ser) 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 0.30 / 1. The record also includes population frequency data and structural context.
A49S (p.Ala49Ser) variant details
- p.Ala49Ser
- NCI-TCGA Cosmic COSV5617
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.3
- REVEL 0.24
- CADD 15.00
- PolyPhen-2 0.01
- SIFT 0.93
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available