P48S (p.Pro48Ser) variant of SERPINC1 (Antithrombin-III)
P48S (p.Pro48Ser) in SERPINC1 (Antithrombin-III) 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 0.57 / 1. The record also includes population frequency data and structural context.
P48S (p.Pro48Ser) variant details
- p.Pro48Ser
- rs769761264
- NCI-TCGA Cosmic COSV6292
- cosmic curated COSV62929
- ExAC rs769761264
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.569
- REVEL 0.52
- CADD 23.60
- PolyPhen-2 0.16
- SIFT 0.02
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the East Asian population (allele frequency 0.0002)
- Structural context available