P69L (p.Pro69Leu) variant of SLC2A4 (P14672)
P69L (p.Pro69Leu) 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 0.41 / 1. The record also includes population frequency data and structural context.
P69L (p.Pro69Leu) variant details
- p.Pro69Leu
- NCI-TCGA Cosmic COSV5030
- cosmic curated COSV50302
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.412
- REVEL 0.31
- CADD 23.90
- PolyPhen-2 0.97
- SIFT 0.03
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Structural context available