I43M (p.Ile43Met) variant of SLC22A5 (O76082)
I43M (p.Ile43Met) in SLC22A5 (O76082) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data and structural context.
I43M (p.Ile43Met) variant details
- p.Ile43Met
- Ensembl rs2126764975
- Missense
- Variant Prioritization Score for Impact Estimate 0.14
- REVEL 0.14
- CADD 11.70
- PolyPhen-2 0.00
- SIFT 0.01
- Most common in the HGDP:MAYA population (allele frequency 0.026)
- Structural context available