V40I (p.Val40Ile) variant of SLC22A1 (O15245)
V40I (p.Val40Ile) in SLC22A1 (O15245) 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 0.48 / 1. The record also includes population frequency data and structural context.
V40I (p.Val40Ile) variant details
- p.Val40Ile
- rs753772607
- ClinGen CA4083596
- NCI-TCGA Cosmic COSV1002
- cosmic curated COSV10026
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.477
- REVEL 0.37
- CADD 17.30
- PolyPhen-2 0.33
- SIFT 0.04
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 0.0002)
- Structural context available