S12P (p.Ser12Pro) variant of ARNT (P27540)
S12P (p.Ser12Pro) in ARNT (P27540) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data.
S12P (p.Ser12Pro) variant details
- p.Ser12Pro
- ExAC rs754657234
- gnomAD rs754657234
- Missense
- Variant Prioritization Score for Impact Estimate 0.418
- REVEL 0.11
- CADD 24.40
- PolyPhen-2 1.00
- SIFT 0.00
- Population evidence available