A31V (p.Ala31Val) variant of SLC2A4 (P14672)
A31V (p.Ala31Val) 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 0.75 / 1. The record also includes population frequency data and structural context.
A31V (p.Ala31Val) variant details
- p.Ala31Val
- rs1243626579
- TOPMed rs1243626579
- gnomAD rs1243626579
- NCI-TCGA Cosmic COSV9914
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.753
- REVEL 0.73
- CADD 26.50
- PolyPhen-2 0.94
- SIFT 0.01
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available