V5M (p.Val5Met) variant of SLC22A2 (O15244)
V5M (p.Val5Met) in SLC22A2 (O15244) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data and structural context.
V5M (p.Val5Met) variant details
- p.Val5Met
- ExAC rs767239723
- TOPMed rs767239723
- gnomAD rs767239723
- Missense
- Variant Prioritization Score for Impact Estimate 0.17
- REVEL 0.19
- CADD 6.52
- PolyPhen-2 0.14
- SIFT 0.09
- Most common in the HGDP:BIAKA population (allele frequency 0.023)
- Structural context available