V11I (p.Val11Ile) variant of SLC26A2 (Sulfate transporter)
V11I (p.Val11Ile) in SLC26A2 (Sulfate transporter) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data and structural context.
V11I (p.Val11Ile) variant details
- p.Val11Ile
- rs770366919
- ClinGen CA3505190
- NCI-TCGA Cosmic COSV5382
- ClinVar RCV003136754
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.243
- REVEL 0.30
- ESM-1b 0.00
- AlphaMissense 0.06
- CADD 9.25
- PolyPhen-2 0.01
- SIFT 0.04
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 4.6e-05)
- Structural context available