V41I (p.Val41Ile) variant of SLC22A2 (O15244)
V41I (p.Val41Ile) in SLC22A2 (O15244) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data and structural context.
V41I (p.Val41Ile) variant details
- p.Val41Ile
- cosmic curated COSV65267
- 1000Genomes rs548362661
- ExAC rs548362661
- TOPMed rs548362661
- Missense
- Variant Prioritization Score for Impact Estimate 0.451
- REVEL 0.30
- CADD 24.10
- PolyPhen-2 0.47
- SIFT 0.05
- Most common in the South Asian population (allele frequency 2.3e-05)
- Structural context available