P48S (p.Pro48Ser) variant of SLC2A4 (P14672)
P48S (p.Pro48Ser) in SLC2A4 (P14672) 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 0.76 / 1. The record also includes population frequency data and structural context.
P48S (p.Pro48Ser) variant details
- p.Pro48Ser
- Ensembl rs2072418724
- NCI-TCGA Cosmic COSV9914
- cosmic curated COSV99142
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.762
- REVEL 0.75
- CADD 25.40
- PolyPhen-2 0.99
- SIFT 0.01
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the South Asian population (allele frequency 0.00012)
- Structural context available