L134V (p.Leu134Val) variant of SLC2A2 (P11168)
L134V (p.Leu134Val) in SLC2A2 (P11168) 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 0.40 / 1. The record also includes population frequency data and structural context.
L134V (p.Leu134Val) variant details
- p.Leu134Val
- NCI-TCGA Cosmic COSV1000
- NCI-TCGA Cosmic COSV5858
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.405
- REVEL 0.42
- CADD 21.30
- PolyPhen-2 0.28
- SIFT 0.03
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available