V38I (p.Val38Ile) variant of APOL1 (Apolipoprotein L1)
V38I (p.Val38Ile) in APOL1 (Apolipoprotein L1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data and structural context.
V38I (p.Val38Ile) variant details
- p.Val38Ile
- rs200488315
- ClinGen CA10208528
- NCI-TCGA Cosmic COSV5986
- cosmic curated COSV59869
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.131
- REVEL 0.06
- CADD 0.10
- PolyPhen-2 0.00
- SIFT 0.51
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:GWD population (allele frequency 0.0043)
- Structural context available